Affinage

SLC22A5

Organic cation/carnitine transporter 2 · UniProt O76082

Length
557 aa
Mass
62.8 kDa
Annotated
2026-06-10
100 papers in source corpus 37 papers cited in narrative 39 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SLC22A5/OCTN2 is a polyspecific plasma membrane solute carrier whose central physiological role is the high-affinity, Na+-coupled cellular uptake of L-carnitine that sustains systemic carnitine homeostasis (PMID:10454528, PMID:11406104). Cloned from placental trophoblast as a twelve-transmembrane protein, it operates as a dual-mode transporter: Na+-independent flux of organic cations such as TEA and Na+-dependent, electrogenic transport of L-carnitine and short-chain acylcarnitines with 1:1 Na+:carnitine stoichiometry, where Na+ raises carnitine affinity without affecting organic cation handling (PMID:9618255, PMID:10454528, PMID:11406104). Mutagenesis and chimera studies place the carnitine and organic cation binding sites in close but non-identical positions, with TM segments 5 and 7–12 and residues including S467, Y447 and Y449 governing Na+ coupling and substrate discrimination, and Y447 additionally required for plasma membrane targeting (PMID:10559218, PMID:12183691, PMID:14665638, PMID:19814996). OCTN2 is highly carnitine-selective rather than a general drug transporter, though it efficiently carries the carnitine analog mildronate and selected quaternary-nitrogen compounds (PMID:18981167). It localizes to apical membranes of renal tubules, intestinal enterocytes and placental syncytiotrophoblasts and to cardiac and barrier endothelia, driving carnitine reabsorption, absorption, maternofetal transfer and tissue distribution (PMID:11406104, PMID:15486076, PMID:16754783, PMID:18574325). Transport capacity is tuned post-translationally by direct interaction of its C-terminal PDZ-binding motif with the scaffolds PDZK1 and PDZK2 and by PKC-driven trafficking into caveolin-1 lipid rafts, and transcriptionally by PPARα via a conserved intronic PPRE and by estrogen receptor/Nurr1 via an intronic enhancer (PMID:15523054, PMID:16896066, PMID:24349196, PMID:19819229, PMID:22212555). Loss-of-function mutations across the gene—including missense alleles, truncations, and a 5'-UTR upstream-ORF variant—cause primary carnitine deficiency, frequently through impaired plasma membrane targeting (PMID:10051646, PMID:31187905, PMID:36343260).

Mechanistic history

Synthesis pass · year-by-year structured walk · 21 steps
  1. 1998 High

    Established the molecular identity of OCTN2 and its capacity to transport organic cations, defining the protein as a polyspecific SLC22 carrier.

    Evidence cDNA cloning from placental trophoblast and TEA transport with cation competition in transfected HeLa cells

    PMID:9618255

    Open questions at the time
    • Carnitine transport not yet identified
    • No physiological substrate or in vivo role established
    • No structural model of substrate sites
  2. 1999 High

    Resolved that OCTN2 is a dual-mode carrier coupling Na+-dependent carnitine transport to Na+-independent organic cation transport, defining its physiological substrate.

    Evidence Radiolabeled uptake with Na+ substitution and kinetics across human, rat, mouse orthologs

    PMID:10454528

    Open questions at the time
    • Stoichiometry and electrogenicity not yet measured
    • Binding site architecture undefined
    • Tissue localization not established
  3. 1999 High

    Established OCTN2 as the causative gene for primary carnitine deficiency by linking patient loss-of-function mutations to abolished transport and rescuing it with wild-type cDNA.

    Evidence Fibroblast transport assays, sequencing of patient alleles, and cDNA rescue transfection

    PMID:10051646 PMID:9837751

    Open questions at the time
    • Genotype-phenotype spectrum across diverse variant classes not resolved
    • Mechanism distinguishing folding vs trafficking vs catalytic defects not yet defined
  4. 1999 High

    Showed that carnitine and organic cation transport can be genetically uncoupled, demonstrating distinct (non-identical) binding determinants for the two substrate classes.

    Evidence Site-directed and chimeric mutagenesis (P478L, L352R, Y211F) with dual-substrate uptake assays

    PMID:10454528 PMID:10559218

    Open questions at the time
    • Precise residues coordinating each substrate not fully mapped
    • No structural validation of separate binding pockets
  5. 2001 High

    Defined the bioenergetics of carnitine transport and localized OCTN2 to renal apical membranes, explaining concentrative carnitine reabsorption.

    Evidence Membrane vesicle uptake with ion substitution, membrane-potential manipulation, and renal immunohistochemistry; plus jvs mouse TEA pharmacokinetics and trans-stimulation

    PMID:11160873 PMID:11406104

    Open questions at the time
    • Conformational cycle of the antiport/symport mechanism not resolved
    • Regulation of surface expression not yet addressed
  6. 2002 High

    Mapped a substrate recognition determinant to TM domain 11, refining the model of closely situated but distinct binding sites and revealing an anion-sensitive component.

    Evidence S467C mutagenesis with carnitine/TEA kinetics, mutual inhibition, and valproate Na+-dependent inhibition

    PMID:12183691

    Open questions at the time
    • Atomic basis of TM11 contribution not structurally defined
    • Physiological relevance of anion recognition unclear
  7. 2003 High

    Identified tyrosine residues required for Na+ coupling versus membrane targeting, separating ion-coupling defects from trafficking defects.

    Evidence Y447/Y449 mutagenesis with Na+ activation kinetics and GFP-fusion confocal localization in CHO cells

    PMID:14665638

    Open questions at the time
    • Mechanism by which Y447 governs trafficking not defined
    • No structural model of the Na+ coordination site
  8. 2004 High

    Demonstrated PDZK1 as a direct C-terminal partner that boosts transport capacity, establishing post-translational scaffold-dependent regulation of OCTN2.

    Evidence Pull-down, yeast two-hybrid, native BBM pull-down, transport assays with C-terminal deletion, and renal co-localization

    PMID:15523054

    Open questions at the time
    • Mechanism of Vmax increase without surface expression change unresolved
    • In vivo requirement not yet tested
  9. 2004 Medium

    Extended OCTN2 carnitine transport to placental and retinal barrier tissues, defining its role in maternofetal and neural carnitine supply.

    Evidence Apical/basal placental vesicle transport with marker co-staining; retinal uptake index and TR-iBRB2 cell transport

    PMID:15486076 PMID:19684012

    Open questions at the time
    • Quantitative contribution to fetal/retinal carnitine supply in vivo not established
    • Regulation in these tissues undefined
  10. 2006 High

    Established OCTN2 roles in intestinal carnitine absorption and cardiac carnitine delivery, and a functional partnership with ABCB1, anchoring its in vivo physiological functions.

    Evidence Ussing-chamber and isolated-cell uptake in jvs mice with immuno-EM; cardiac expression, transcellular double-transfection with ABCB1, immunofluorescence

    PMID:15523054 PMID:16490820 PMID:16754783

    Open questions at the time
    • Mechanism of OCTN2-ABCB1 functional coupling not detailed
    • Heart cell-type expression debated (endothelial vs myocyte)
  11. 2007 High

    Identified OCTN2 as a PPARα-regulated gene in vivo, linking carnitine transport to fatty-acid oxidation transcriptional programs.

    Evidence PPARα agonist and fasting in wild-type vs PPARα-/- mice with OCTN2 mRNA and carnitine measurements

    PMID:17692817 PMID:18520060

    Open questions at the time
    • Cis-element location not yet defined (resolved later)
    • Tissue-specific regulatory differences not addressed
  12. 2007 Medium

    Broadened OCTN2 cargo to a bacterial quorum-sensing peptide, linking transport to host intestinal cytoprotective signaling.

    Evidence Cell-based CSF uptake with OCTN2 inhibition and downstream p38/Akt/HSP signaling readouts

    PMID:18005709

    Open questions at the time
    • Direct vs indirect peptide transport not fully resolved
    • In vivo relevance of host-microbe signaling not established
  13. 2008 High

    Defined OCTN2 as a highly carnitine-selective transporter rather than a general drug carrier, with mildronate as the notable transported analog.

    Evidence LC/MS comparative uptake of multiple drugs across human, rat, chicken orthologs in HEK293

    PMID:18981167

    Open questions at the time
    • Structural basis of carnitine selectivity not resolved
    • Does not address minor in vivo drug-transport contributions
  14. 2008 High

    Confirmed PDZK1 as an in vivo regulator of OCTN2 apical targeting and identified PDZK2 as a second scaffold partner, defining a PDZ-protein regulatory module.

    Evidence pdzk1-/- mice with carnitine absorption and BBM expression; PDZK2 co-expression transport with C-terminal deletion and renal co-localization

    PMID:15523054 PMID:16896066 PMID:18322073

    Open questions at the time
    • Relative contributions of PDZK1 vs PDZK2 in vivo not quantified
    • Mechanism of differential effect on Vmax vs surface expression unclear
  15. 2009 High

    Localized the PPARα response to a functional intronic PPRE bound by PPARα/RXRα, establishing direct transcriptional control of OCTN2.

    Evidence Reporter assays with intronic constructs, PPRE mutagenesis, and EMSA in mouse; later extended to human/porcine/bovine

    PMID:19819229 PMID:25299939

    Open questions at the time
    • Interplay with other transcription factors not addressed
    • Chromatin context in native locus not examined
  16. 2009 High

    Mapped substrate discrimination between OCTN2 (carnitine) and OCTN1 (ergothioneine) to specific TM segments and distinct exclusion mechanisms (binding vs turnover).

    Evidence Alignment-guided gain-of-function mutagenesis across TM 5,7–10,12 with dual-substrate uptake

    PMID:19814996

    Open questions at the time
    • Structural conformations underlying turnover-based exclusion not resolved
    • No atomic structure
  17. 2013 Medium

    Defined PKC-driven trafficking of OCTN2 into caveolin-1 lipid rafts as a dynamic post-translational regulator of carnitine transport.

    Evidence Phorbol ester PKC activation, raft fractionation, co-IP, proximity ligation, caveolin-binding motif mutagenesis in astrocytes

    PMID:24349196

    Open questions at the time
    • In vivo significance of raft trafficking unestablished
    • Single cell-type/lab
  18. 2016 Medium

    Linked OCTN2 induction to immune-cell metabolic reprogramming via mTOR-STAT3 signaling during macrophage differentiation.

    Evidence Monocyte-to-macrophage differentiation with carnitine uptake kinetics and mTOR/STAT3 inhibitor dissection

    PMID:27733576

    Open questions at the time
    • Direct STAT3 binding to the SLC22A5 promoter not shown
    • Functional consequence for macrophage biology not defined
  19. 2012 High

    Identified estrogen receptor/Nurr1 control of SLC22A5 and a pro-proliferative role of carnitine uptake in breast cancer, extending its regulation to hormone signaling.

    Evidence ERE reporter mutagenesis, ChIP, siRNA of ER/Nurr1, carnitine uptake, lipid staining, proliferation assays; plus colon cytokine/PPARγ regulation

    PMID:22212555 PMID:32579962

    Open questions at the time
    • Generality across tumor types not established
    • Mechanistic link between carnitine uptake and proliferation incompletely defined
  20. 2019 High

    Revealed a 5'-UTR upstream-ORF variant as a prevalent disease mechanism that suppresses translation from the canonical start codon.

    Evidence Sanger sequencing, luciferase reporters, and MS-based carnitine transport in patient fibroblasts

    PMID:31187905

    Open questions at the time
    • Cohort-specific allele frequency may not generalize
    • Effect on other regulatory variants not addressed
  21. 2022 High

    Systematically quantified the functional and trafficking consequences of OCTN2 variants, establishing membrane mistargeting as a dominant loss-of-function mechanism in carnitine transporter deficiency.

    Evidence Carnitine uptake and GFP localization for 150 variants in HEK293T with variant-effect prediction

    PMID:36343260

    Open questions at the time
    • Mechanism of mistargeting (folding, chaperone, motif) not resolved per variant
    • In vivo clinical correlation not directly tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • An atomic-resolution structure defining the carnitine and organic cation binding pockets, the Na+ coordination geometry, and the conformational cycle underlying transport and substrate exclusion remains to be determined.
  • No experimental 3D structure in the corpus
  • Transport conformational cycle inferred only from mutagenesis
  • Mechanistic basis of variant-specific trafficking defects unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 4 GO:0140104 molecular carrier activity 2
Localization
GO:0005886 plasma membrane 4 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-1430728 Metabolism 2 R-HSA-382551 Transport of small molecules 2
Partners
ABCB1CAV1PDZK1PDZK2

Evidence

Reading pass · 39 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 OCTN2 (SLC22A5) was cloned from human placental trophoblast cells and encodes a 557 amino acid protein with twelve putative transmembrane domains; when heterologously expressed in HeLa cells, it mediates pH-dependent transport of the organic cation tetraethylammonium (TEA), and multiple organic cations (MPP+, MPTP, methamphetamine) compete for OCTN2-mediated transport. cDNA cloning, heterologous expression in HeLa cells, transport competition assays Biochemical and biophysical research communications High 9618255
1999 OCTN2 functions as a dual-mode transporter: it transports organic cations (e.g., TEA) in a Na+-independent manner and transports L-carnitine and short-chain acylcarnitines in a Na+-dependent manner. Na+ increases affinity for carnitine severalfold without affecting affinity for organic cations. This bifunctionality is conserved in human, rat, and mouse OCTN2. Heterologous expression in cell lines (HeLa/HEK), radiolabeled substrate uptake assays, Na+ substitution experiments, kinetic analysis The Journal of pharmacology and experimental therapeutics High 10454528
1999 Loss-of-function mutations in OCTN2 (R282X, Y401X, 458X frameshift) abolish carnitine transport in fibroblasts from primary carnitine deficiency patients; transfection of wild-type OCTN2 cDNA partially restores transport, establishing OCTN2 as the causative gene for primary carnitine deficiency (CDSP). Fibroblast transport assay, OCTN2 cDNA rescue transfection, gene sequencing Proceedings of the National Academy of Sciences of the United States of America High 10051646
1999 Two missense mutations in OCTN2 (M352R/L352R in mouse and P478L in human) associated with primary carnitine deficiency result in loss of carnitine transport function despite normal protein expression levels, indicating that these residues are critical for transport activity rather than protein stability. Site-directed mutagenesis, heterologous expression, radiolabeled carnitine uptake, Western blot The Journal of pharmacology and experimental therapeutics High 10454528
1998 The juvenile visceral steatosis (JVS) mouse model of systemic carnitine deficiency carries a missense mutation (L352R) in the sixth transmembrane domain of mouse Octn2, establishing the JVS mouse as an Octn2 loss-of-function model. DNA sequencing, comparative genomic mapping Biochemical and biophysical research communications Medium 9837751
1999 The P478L mutation of OCTN2 selectively abolishes carnitine transport while significantly stimulating organic cation (TEA) transport, whereas the L352R mutation abolishes both functions. Studies with human/rat OCTN2 chimeras indicate that the carnitine and organic cation binding sites are not identical. Mutating Y211F also differentially affects the two transport activities. Site-directed mutagenesis, chimeric transporter construction, heterologous expression, radiolabeled substrate uptake assays The Journal of biological chemistry High 10559218
2001 OCTN2-mediated Na+-coupled L-carnitine transport is electrogenic with 1:1 Na+:carnitine stoichiometry; transport is driven by an inwardly directed Na+ gradient and is sensitive to membrane potential. OCTN2 protein is localized to the apical membrane of renal tubular epithelial cells, consistent with a role in concentrative carnitine reabsorption. Plasma membrane vesicle preparation from stably transfected HEK293 cells, radiolabeled carnitine uptake with ion substitution, valinomycin membrane potential manipulation, immunohistochemistry Biochimica et biophysica acta High 11406104
2001 OCTN2 mediates TEA transport in jvs mouse embryonic fibroblasts; jvs mice show decreased tissue distribution and renal secretory clearance of TEA. Carnitine and TEA show mutual trans-stimulation in transport, suggesting a carnitine/TEA exchange mechanism. Na+ affects carnitine affinity but not TEA transport. Pharmacokinetic analysis of [14C]TEA in jvs vs. wild-type mice, fibroblast transport assays, trans-stimulation experiments Molecular pharmacology High 11160873
2001 OCTN2 is expressed in rat and human brain capillary endothelial cells (BCECs) and mediates Na+-dependent, saturable transport of L-carnitine and acetyl-L-carnitine across the blood-brain barrier. Brain distributions of carnitine and acetyl-L-carnitine are reduced in jvs mice with defective OCTN2. In vivo rat brain perfusion, primary BCEC cultures, RT-PCR, [3H]carnitine uptake assays, jvs mouse in vivo studies Journal of neurochemistry High 11739607
2000 Beta-lactam antibiotics with a quaternary nitrogen (cephaloridine, cefoselis, cefepime, cefluprenam) competitively inhibit OCTN2-mediated carnitine transport and are themselves transported by OCTN2. Na+-dependent OCTN2-mediated uptake of cephaloridine was directly demonstrated. Beta-lactams lacking quaternary nitrogen do not interact with OCTN2. Heterologous expression of human and rat OCTN2 in cell lines, radiolabeled carnitine transport inhibition assays, direct [14C]cephaloridine uptake measurement, competitive inhibition kinetics The Journal of biological chemistry High 10636865
2002 The S467C mutation in OCTN2 (Ser in TM domain 11) increases the Km for carnitine ~15-fold without affecting organic cation (TEA) transport. Mutual inhibition kinetics between carnitine and TEA are not completely competitive, suggesting closely situated but non-identical binding sites. Valproate (organic anion) inhibits both carnitine and TEA transport in a Na+-dependent manner, implicating an anion recognition site in TM domain 11 that is altered by S467C. Site-directed mutagenesis, heterologous expression, kinetic analysis of carnitine/TEA transport, mutual inhibition studies, Na+ activation kinetics The Journal of pharmacology and experimental therapeutics High 12183691
2003 Tyrosine residues Y447 and Y449 in OCTN2 are required for Na+-stimulated carnitine transport. Y449D increases the Na+ concentration required for half-maximal carnitine transport stimulation; Y447C abolishes carnitine transport and organic cation transport and prevents plasma membrane localization (assessed by GFP-tagged OCTN2 confocal microscopy). Y447F impairs Na+ coupling without affecting membrane localization, while Y449F is functionally normal. Site-directed mutagenesis, heterologous expression in CHO cells, kinetic analysis of Na+ activation, GFP-fusion protein confocal microscopy for subcellular localization The Journal of biological chemistry High 14665638
2004 PDZK1 directly interacts with the last four amino acids of the C-terminus of OCTN2 (but not basolateral OCT1/OCT2). This interaction stimulates OCTN2-mediated carnitine transport ~6-fold by increasing transport capacity (Vmax), without substantially altering cell-surface expression. PDZK1 and OCTN2 co-localize in brush-border membranes of kidney tubular cells. Pull-down assay with recombinant C-terminal proteins, yeast two-hybrid, kidney BBM vesicle pull-down, double transfection transport assays, C-terminal deletion mutagenesis, surface biotinylation, immunohistochemistry Molecular pharmacology High 15523054
2004 OCTN2 is localized to the apical membrane of syncytiotrophoblasts in human placenta (confirmed by co-staining with apical marker MRP2 and basal marker OATP-B, and by higher carnitine uptake in apical vs. basal membrane vesicles). OCTN2-mediated carnitine uptake in apical placental vesicles is Na+- and pH-dependent with Km ~21 µM. OCTN2 expression is modulated by trophoblast differentiation. Confocal immunofluorescence microscopy with marker co-staining, apical/basal membrane vesicle transport assays, real-time PCR, trophoblast differentiation culture Drug metabolism and disposition: the biological fate of chemicals High 15486076
2006 OCTN2 is expressed mainly in endothelial cells of the human heart and transports cardiovascular drugs verapamil, spironolactone, and mildronate (as both inhibitors and substrates). OCTN2 expression correlates significantly with ABCB1 (P-glycoprotein) expression in heart; double-transfection studies show functional coupling between OCTN2 and ABCB1 in transcellular transport of verapamil. Beta-blocker administration significantly increases cardiac OCTN2 expression. Quantitative PCR, in situ hybridization, laser microdissection, immunofluorescence microscopy, MDCKII heterologous expression transport assays, double transfection transcellular transport assay Circulation High 16490820
2006 OCTN2 is predominantly responsible for apical carnitine uptake in mouse small intestinal epithelial cells, as demonstrated by near-absence of saturable apical carnitine transport in jvs (Octn2-deficient) mice. OCTN2 co-localizes with PDZK1 adaptor protein in microvilli of absorptive enterocytes by immunoprecipitation and immunoelectron microscopy. Ussing-chamber transport assay comparing wild-type vs. jvs mice, isolated enterocyte uptake assays, immunohistochemistry, immunoprecipitation, immunoelectron microscopy Molecular pharmacology High 16754783
2006 OCTN2 C-terminal deletion mutants lacking the last four amino acids fail to respond to PDZK1 stimulation, confirming that the C-terminal PDZ-binding motif is required for PDZK1 interaction and functional stimulation. C-terminal deletion mutagenesis, double transfection, transport assays Molecular pharmacology Medium 15523054
2006 The Phe17Leu polymorphism of OCTN2 reduces Vmax for L-carnitine transport to ~50% of reference and causes diffuse cytoplasmic retention rather than plasma membrane localization, revealing that defective membrane targeting is a mechanism of reduced transport function. Heterologous expression in HEK293 cells, radiolabeled carnitine and TEA transport assays, OCTN2-GFP fusion protein confocal microscopy Molecular pharmacology Medium 16931768
2007 OCTN2 mediates uptake of the Bacillus subtilis quorum-sensing pentapeptide CSF across the apical membrane of intestinal epithelial cells. CSF-induced activation of p38 MAPK, Akt, and cytoprotective heat shock proteins in intestinal cells depends on OCTN2-mediated CSF transport. Cell-based CSF uptake assays, pharmacological inhibition of OCTN2, signaling pathway analysis (p38, Akt activation), HSP induction assays Cell host & microbe Medium 18005709
2007 PPARα activation (by fasting or WY-14643 treatment) increases hepatic OCTN2 mRNA expression and hepatic carnitine accumulation in a PPARα-dependent manner; this effect is absent in PPARα-/- mice, establishing OCTN2 as a PPARα-regulated gene in vivo. PPARα agonist treatment of wild-type and PPARα knockout mice, OCTN2 mRNA quantification, carnitine/acylcarnitine measurements Biochimica et biophysica acta High 17692817
2007 OCTN2 is localized to the basolateral membrane and perinuclear cytoplasmic region of blood-brain barrier endothelial cells (not exclusively apical), suggesting OCTN2 can also mediate carnitine transport from the brain side. Real-time PCR, Western blot, immunocytochemistry with confocal Z-axis analysis using P-glycoprotein as apical membrane marker Journal of neurochemistry Medium 17995936
2008 OCTN2 is a highly specific carnitine transporter: among multiple tested drugs (cephaloridine, ergothioneine, gabapentin, pyrilamine, quinidine, spironolactone, TEA, verapamil, vigabatrin), only mildronate (a carnitine structural analog) was efficiently transported. TEA and ergothioneine showed minute transport relative to carnitine. OCTN2 is not a general drug transporter. Inducible expression of human, rat, and chicken OCTN2 orthologs in HEK293 cells, LC/MS-based uptake quantification, parallel carnitine reference assays Drug metabolism and disposition: the biological fate of chemicals High 18981167
2008 PPARα ligand fenofibrate/Wy14643 upregulates rat Octn2 mRNA in primary hepatocytes and in vivo in wild-type but not PPARα knockout mice, increasing hepatic carnitine uptake. Analysis of rOctn2 promoter identified putative PPARα cis elements. Primary rat hepatocyte culture with PPARα ligands, PPARα knockout mouse experiments, RT-PCR, [3H]carnitine uptake by isolated hepatocytes Biological & pharmaceutical bulletin High 18520060
2008 PDZK2 (IKEPP) physically interacts with OCTN2 via the C-terminal four amino acids of OCTN2 and stimulates OCTN2-mediated carnitine transport ~2-fold by increasing cell-surface expression of OCTN2. This effect is lost when the last four amino acids of OCTN2 are deleted. PDZK2 and OCTN2 co-localize in a subapical compartment in mouse kidney. HEK293 co-expression, radiolabeled carnitine uptake, C-terminal deletion mutagenesis, cell-surface expression analysis, immunohistochemistry Drug metabolism and disposition: the biological fate of chemicals Medium 16896066
2008 In vivo studies in jvs mice confirm OCTN2 is responsible for distributing carnitine to the heart; OCTN2 protein is localized to the plasma membrane of cardiac muscle cells by immunoelectron microscopy. Quinidine distribution to the heart is not mediated by OCTN2 despite being an OCTN2 substrate. Integration plot analysis, heart slice [3H]carnitine uptake in wild-type vs. jvs mice, immunoelectron microscopy Drug metabolism and pharmacokinetics High 18574325
2008 PDZK1 knockout mice show reduced apical membrane expression and protein levels of OCTN2 (Slc22a5) in small intestinal epithelial cells and decreased intestinal absorption of carnitine, confirming PDZK1 as an in vivo regulator of OCTN2 apical targeting and transport function. pdzk1(-/-) knockout mice, oral carnitine absorption studies, immunohistochemistry, Western blot of brush-border membrane fractions, electron microscopy Drug metabolism and disposition: the biological fate of chemicals High 18322073
2008 Omeprazole inhibits OCTN2-mediated carnitine/carnitine antiport reconstituted in liposomes via two mechanisms: covalent reaction with Cys residue(s) (non-competitive, partially reversible by DTE, IC50=5.7 µM) and non-covalent competitive inhibition (IC50=20.4 µM). Inhibition is only from the external face; omeprazole is not itself transported. OCTN2 reconstitution in liposomes (proteoliposomes), [3H]-carnitine antiport assay, DTE reversibility test, kinetic analysis, sided inhibition studies Chemico-biological interactions Medium 19041296
2009 Mouse OCTN2 is directly transcriptionally regulated by PPARα via a functional PPRE (PPRE1) located in the first intron. PPARα/RXRα heterodimer binds PPRE1 in gel shift assays; selective mutation of PPRE1 abolishes responsiveness to PPARα activation in reporter gene assays. In silico PPRE identification, reporter gene assays with intronic constructs, selective PPRE mutagenesis, gel shift (EMSA) assays with PPARα/RXRα Biochemical pharmacology High 19819229
2009 Substrate discrimination between SLC22A5 (OCTN2/CTT, carnitine) and SLC22A4 (OCTN1/ETT, ergothioneine) involves transmembrane segments 5, 7, 8, 9, 10, and 12. Carnitine is excluded from ETT by binding, whereas ergothioneine is excluded from CTT by turnover movement (conformational change pathway), as demonstrated by gain-of-function mutagenesis. Multiple alignment-guided site-directed mutagenesis, heterologous expression in HEK293 cells, uptake assays for ergothioneine and carnitine Biochimica et biophysica acta High 19814996
2011 OCTN2 transports oxaliplatin; HEK293 cells overexpressing human OCTN2 show increased [14C]oxaliplatin uptake and cytotoxicity that are inhibited by L-carnitine. OCTN2 is functionally expressed in rat dorsal root ganglion (DRG) neurons and contributes to neuronal oxaliplatin accumulation, though OCTN1-mediated transport appears to dominate neurotoxicity. Radiolabeled oxaliplatin uptake in OCTN2-overexpressing HEK293 cells, cytotoxicity assays, competitive inhibition with carnitine/ergothioneine, RT-PCR and functional transport assays in rat DRG The Journal of pharmacology and experimental therapeutics Medium 21606177
2012 SLC22A5/OCTN2 expression in breast cancer cells is induced by estrogen via a novel intronic estrogen-response element (ERE) requiring co-recruitment of both estrogen receptor (ER) and NR4A2/Nurr1. siRNA knockdown of either ER or Nurr1 inhibits estrogen induction of SLC22A5; ChIP assays confirm ER and Nurr1 binding to this intronic enhancer. SLC22A5 knockdown inhibits L-carnitine uptake, causes lipid droplet accumulation, and suppresses breast cancer cell proliferation. Luciferase reporter assays with ERE mutagenesis, siRNA knockdown, ChIP assays, radiolabeled carnitine uptake, lipid staining, cell proliferation assays Breast cancer research and treatment High 22212555
2013 Caveolin-1 directly interacts with OCTN2 in rat astrocytes; PKC activation increases L-carnitine transport, promotes OCTN2 trafficking to cholesterol/sphingolipid-rich plasma membrane rafts, and increases OCTN2-caveolin-1 co-precipitation. The caveolin-1 binding motifs on OCTN2 map to amino acids 14-22 and 447-454. Direct OCTN2-caveolin-1 interaction (but not flotillin-1) was confirmed by proximity ligation assay upon PKC activation. Phorbol ester PKC activation, [14C]L-carnitine transport assays, raft fractionation, co-immunoprecipitation, proximity ligation assay, deletion mutagenesis of caveolin-binding motifs PloS one Medium 24349196
2014 The human, porcine, and bovine OCTN2 genes are directly regulated by PPARα via a conserved functional PPRE in intron 1, confirmed by reporter gene assays and gel shift assays showing PPARα/RXRα binding to this PPRE. This regulatory mechanism is conserved across species. Positional cloning, reporter gene assays with intron 1 constructs, EMSA gel shift assays BMC genetics High 25299939
2016 GM-CSF-induced differentiation of human monocytes to macrophages massively upregulates OCTN2-mediated high-affinity Na+-dependent L-carnitine transport (Km ~4 µM) through the mTOR-STAT3 signaling axis; STAT3 phosphorylation downstream of mTOR drives SLC22A5/OCTN2 transcription. Human monocyte-to-macrophage differentiation, kinetic [14C]carnitine uptake assays, mTOR/STAT3 inhibitor experiments, RT-PCR and Western blot for OCTN2 and SNAT2 Journal of leukocyte biology Medium 27733576
2018 OCTN2 protein in HEK293-derived exosomes is functional: exosomal OCTN2 reconstituted into proteoliposomes mediates Na+-dependent, pH-dependent [3H]-carnitine transport. Functional OCTN2 is also detected in human urinary exosomes. Pro-inflammatory IFNγ treatment increases exosomal OCTN2 levels. Exosome isolation, Western blot, reconstitution of exosomal proteins into proteoliposomes, [3H]-carnitine uptake assay, IFNγ treatment Scientific reports Medium 29491466
2019 A 5'-UTR variant (c.-149G>A) of SLC22A5 introduces an upstream out-of-frame translation initiation codon that suppresses translation from the wild-type ATG, resulting in reduced OCTN2 protein levels and lower carnitine transport activity in patient fibroblasts. This is the most frequent cause of primary carnitine deficiency in a Dutch cohort (allele frequency 24.2%). Sanger sequencing, luciferase reporter constructs in HeLa cells, tandem mass spectrometry-based carnitine transport assay in fibroblasts Human mutation High 31187905
2020 Proinflammatory cytokines (TNF-α, IL-1β, IFNγ) downregulate OCTN2 expression and reduce L-carnitine content in colon cells via PPARγ/RXRα pathways. OCTN2 silencing reduces colon cell proliferation; OCTN2 overexpression increases it. PPARγ agonist luteolin restores OCTN2 expression and alleviates colonic inflammation in an IBD model. Cytokine treatment of FHC colon cells, PPARγ/RXRα pathway analysis, siRNA knockdown and OCTN2 overexpression, cell proliferation assays, IBD mouse model with luteolin treatment Biochemical pharmacology Medium 32579962
2022 Systematic functional characterization of 150 OCTN2 variants revealed that 70% reduce carnitine transport and 62% of GFP-tagged variants impair plasma membrane localization in HEK293T cells. Impaired subcellular localization significantly associates with reduced transport function, establishing membrane mistargeting as a major loss-of-function mechanism for OCTN2 variants in Carnitine Transporter Deficiency. [14C]-carnitine uptake assays for 150 variants expressed in HEK293T cells, GFP-tagged variant subcellular localization by fluorescence microscopy, machine learning variant effect prediction Proceedings of the National Academy of Sciences of the United States of America High 36343260
2004 OCTN2 is expressed in brain capillary endothelial cells forming the inner blood-retinal barrier (TR-iBRB2 cells and isolated rat retinal vascular endothelial cells) and mediates Na+-dependent, saturable uptake of L-carnitine and acetyl-L-carnitine (Km ~26-29 µM). OCTN2 substrates and inhibitors block carnitine/acetylcarnitine uptake in retinal endothelial cells. In vivo retinal uptake index analysis, TR-iBRB2 cell culture transport assays, RT-PCR, inhibitor competition Investigative ophthalmology & visual science Medium 19684012

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1998 cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochemical and biophysical research communications 274 9618255
1999 Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. The Journal of pharmacology and experimental therapeutics 267 10454528
2007 The Bacillus subtilis quorum-sensing molecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter. Cell host & microbe 170 18005709
1999 Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proceedings of the National Academy of Sciences of the United States of America 153 10051646
2001 Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2. Molecular pharmacology 149 11160873
1999 Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Human molecular genetics 138 10545605
2000 beta-lactam antibiotics as substrates for OCTN2, an organic cation/carnitine transporter. The Journal of biological chemistry 137 10636865
2001 Functional relevance of carnitine transporter OCTN2 to brain distribution of L-carnitine and acetyl-L-carnitine across the blood-brain barrier. Journal of neurochemistry 133 11739607
2011 Oxaliplatin transport mediated by organic cation/carnitine transporters OCTN1 and OCTN2 in overexpressing human embryonic kidney 293 cells and rat dorsal root ganglion neurons. The Journal of pharmacology and experimental therapeutics 117 21606177
1999 Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Human molecular genetics 115 10072434
2012 Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21). Biopharmaceutics & drug disposition 113 22952014
2001 Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney. Biochimica et biophysica acta 113 11406104
2006 Uptake of cardiovascular drugs into the human heart: expression, regulation, and function of the carnitine transporter OCTN2 (SLC22A5). Circulation 97 16490820
2004 Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. Journal of human genetics 96 15503241
2002 Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. American journal of medical genetics 92 12210323
2004 Expression, localization, and function of the carnitine transporter octn2 (slc22a5) in human placenta. Drug metabolism and disposition: the biological fate of chemicals 87 15486076
2007 PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation. Biochimica et biophysica acta 81 17692817
2006 Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse. Molecular pharmacology 73 16754783
2017 L-Carnitine-conjugated nanoparticles to promote permeation across blood-brain barrier and to target glioma cells for drug delivery via the novel organic cation/carnitine transporter OCTN2. Artificial cells, nanomedicine, and biotechnology 68 28974108
2012 Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacological research 67 23127916
1998 Molecular characterization of CDSP 34, a chloroplastic protein induced by water deficit in Solanum tuberosum L. plants, and regulation of CDSP 34 expression by ABA and high illumination. The Plant journal : for cell and molecular biology 66 9839468
1998 A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse. Biochemical and biophysical research communications 65 9837751
2017 Dual targeting of l-carnitine-conjugated nanoparticles to OCTN2 and ATB0,+ to deliver chemotherapeutic agents for colon cancer therapy. Drug delivery 64 28911246
1999 Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. The Journal of biological chemistry 64 10559218
2008 The carnitine transporter SLC22A5 is not a general drug transporter, but it efficiently translocates mildronate. Drug metabolism and disposition: the biological fate of chemicals 63 18981167
2007 Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Molecular genetics and metabolism 62 17884651
2004 L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2. American journal of physiology. Cell physiology 62 15238359
2010 Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Human mutation 60 20574985
2003 Acetyl-L-carnitine permeability across the blood-brain barrier and involvement of carnitine transporter OCTN2. Biopharmaceutics & drug disposition 60 14595704
2011 Selective regulation of cardiac organic cation transporter novel type 2 (OCTN2) in dilated cardiomyopathy. The American journal of pathology 59 21641380
2004 PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2. Molecular pharmacology 59 15523054
2009 Mouse OCTN2 is directly regulated by peroxisome proliferator-activated receptor alpha (PPARalpha) via a PPRE located in the first intron. Biochemical pharmacology 56 19819229
2007 Transport of butyryl-L-carnitine, a potential prodrug, via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+). American journal of physiology. Gastrointestinal and liver physiology 55 17855766
2002 Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. The Journal of pharmacology and experimental therapeutics 54 12183691
1999 Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochemical and biophysical research communications 54 10425211
2002 Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Molecular genetics and metabolism 53 12409266
2000 Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Human mutation 53 11058897
2019 SLC22A5 (OCTN2) Carnitine Transporter-Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer. Molecules (Basel, Switzerland) 52 31861504
2007 Localization of organic cation/carnitine transporter (OCTN2) in cells forming the blood-brain barrier. Journal of neurochemistry 52 17995936
2006 Experimental colitis: decreased Octn2 and Atb0+ expression in rat colonocytes induces carnitine depletion that is reversible by carnitine-loaded liposomes. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 52 17065219
1999 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Human genetics 52 10480371
2005 Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Human mutation 51 15714519
2000 Involvement of CDSP 32, a drought-induced thioredoxin, in the response to oxidative stress in potato plants. FEBS letters 51 10675547
2012 SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE). Breast cancer research and treatment 50 22212555
2019 L-Carnitine-Mediated Tumor Cell Protection and Poor Patient Survival Associated with OCTN2 Overexpression in Glioblastoma Multiforme. Clinical cancer research : an official journal of the American Association for Cancer Research 49 30670496
2003 Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. Journal of inherited metabolic disease 49 14605509
2000 A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. Human mutation 47 10679939
2020 Glioma cells survival depends both on fatty acid oxidation and on functional carnitine transport by SLC22A5. Journal of neurochemistry 45 32654140
2018 Integrative expression quantitative trait locus-based analysis of colorectal cancer identified a functional polymorphism regulating SLC22A5 expression. European journal of cancer (Oxford, England : 1990) 45 29428571
2010 Cisplatin-induced downregulation of OCTN2 affects carnitine wasting. Clinical cancer research : an official journal of the American Association for Cancer Research 45 20858838
2009 Involvement of OCTN2 in the transport of acetyl-L-carnitine across the inner blood-retinal barrier. Investigative ophthalmology & visual science 45 19684012
2008 PDZK1 regulates two intestinal solute carriers (Slc15a1 and Slc22a5) in mice. Drug metabolism and disposition: the biological fate of chemicals 44 18322073
2003 Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells. American journal of physiology. Gastrointestinal and liver physiology 44 12684216
2006 Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort. Immunology and cell biology 43 16519742
2008 Expression and localization of carnitine/organic cation transporter OCTN1 and OCTN2 in ocular epithelium. Investigative ophthalmology & visual science 42 18641280
2006 Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Molecular pharmacology 42 16931768
2002 A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Human mutation 42 12204000
2006 Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Human mutation 41 16835882
2008 Regulation of Octn2 transporter (SLC22A5) by peroxisome proliferator activated receptor alpha. Biological & pharmaceutical bulletin 35 18520060
2000 Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. Human mutation 35 10612840
2003 Molecular cloning and functional characterization of the OCTN2 transporter at the RBE4 cells, an in vitro model of the blood-brain barrier. Brain research 33 12644265
2020 Intestinal OCTN2- and MCT1-targeted drug delivery to improve oral bioavailability. Asian journal of pharmaceutical sciences 32 32256846
2018 Expression of MATE1, P-gp, OCTN1 and OCTN2, in epithelial and immune cells in the lung of COPD and healthy individuals. Respiratory research 31 29678179
2004 Involvement of OCTN2 and B0,+ in the transport of carnitine through an in vitro model of the blood-brain barrier. Journal of neurochemistry 31 15525340
2002 Organic cation/carnitine transporter, OCTN2, is differentially expressed in the adult rat epididymis. Biology of reproduction 31 12080034
2013 Functional expression of organic cation/carnitine transporter 2 (OCTN2/SLC22A5) in human brain capillary endothelial cell line hCMEC/D3, a human blood-brain barrier model. Drug metabolism and pharmacokinetics 30 23877104
2023 OCTN2 enhances PGC-1α-mediated fatty acid oxidation and OXPHOS to support stemness in hepatocellular carcinoma. Metabolism: clinical and experimental 29 37315888
2005 Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. World journal of gastroenterology 29 16437728
2016 Human macrophage differentiation induces OCTN2-mediated L-carnitine transport through stimulation of mTOR-STAT3 axis. Journal of leukocyte biology 28 27733576
2012 Human OCTN2 (SLC22A5) is down-regulated in virus- and nonvirus-mediated cancer. Cell biochemistry and function 28 22374795
2009 Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). The Journal of pharmacology and experimental therapeutics 28 19141711
2008 Involvement of carnitine/organic cation transporter OCTN2 (SLC22A5) in distribution of its substrate carnitine to the heart. Drug metabolism and pharmacokinetics 28 18574325
2007 OCTN2-mediated carnitine uptake in a newly discovered human proximal tubule cell line (Caki-1). Molecular pharmaceutics 28 17274673
2006 Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study. BMC medical genetics 28 16796743
2004 Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families. American journal of medical genetics. Part A 28 15487009
2019 Up-regulation of hepatic fatty acid transporters and inhibition/down-regulation of hepatic OCTN2 contribute to olanzapine-induced liver steatosis. Toxicology letters 27 31437515
2008 Clofibrate treatment up-regulates novel organic cation transporter (OCTN)-2 in tissues of pigs as a model of non-proliferating species. European journal of pharmacology 26 18258227
2020 The Protective Effect of Cynara Cardunculus Extract in Diet-Induced NAFLD: Involvement of OCTN1 and OCTN2 Transporter Subfamily. Nutrients 25 32429274
2006 Role of SLC22A4, SLC22A5, and RUNX1 genes in rheumatoid arthritis. The Journal of rheumatology 25 16652416
2014 Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxaliplatin through the PPARγ/OCTN2 pathway. Anti-cancer drugs 24 25075794
2010 Cytokine regulation of OCTN2 expression and activity in small and large intestine. Inflammatory bowel diseases 24 20722056
2010 Hypoxia-mediated down-regulation of OCTN2 and PPARα expression in human placentas and in BeWo cells. Molecular pharmaceutics 24 21125992
2008 Inactivation by omeprazole of the carnitine transporter (OCTN2) reconstituted in liposomes. Chemico-biological interactions 24 19041296
2018 Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter. Scientific reports 23 29491466
2014 Transcriptional regulation of the human, porcine and bovine OCTN2 gene by PPARα via a conserved PPRE located in intron 1. BMC genetics 23 25299939
2007 Effects of low oxygen levels on the expression and function of transporter OCTN2 in BeWo cells. The Journal of pharmacy and pharmacology 23 17725851
2006 Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease. World journal of gastroenterology 23 17006998
2022 Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency. Proceedings of the National Academy of Sciences of the United States of America 21 36343260
2020 Downregulation of OCTN2 by cytokines plays an important role in the progression of inflammatory bowel disease. Biochemical pharmacology 21 32579962
2019 A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. Human mutation 21 31187905
2014 Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency. Molecular genetics and metabolism reports 21 27896095
2009 Substrate discrimination by ergothioneine transporter SLC22A4 and carnitine transporter SLC22A5: gain-of-function by interchange of selected amino acids. Biochimica et biophysica acta 21 19814996
2003 Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. The Journal of biological chemistry 21 14665638
2017 Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment. Journal of experimental & clinical cancer research : CR 20 28420426
2013 Caveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2): effect of protein kinase C on this interaction in rat astrocytes. PloS one 20 24349196
2012 Over-expression in E. coli and purification of the human OCTN2 transport protein. Molecular biotechnology 20 21487769
2010 Organic cation/carnitine transporter, OCTN2, transcriptional activity is regulated by osmotic stress in epididymal cells. Molecular reproduction and development 19 19899138
2006 Analysis of chromosome 5q31-32 and psoriasis: confirmation of a susceptibility locus but no association with SNPs within SLC22A4 and SLC22A5. The Journal of investigative dermatology 19 16484987
2006 PDZ adaptor protein PDZK2 stimulates transport activity of organic cation/carnitine transporter OCTN2 by modulating cell surface expression. Drug metabolism and disposition: the biological fate of chemicals 19 16896066
2004 Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. Journal of inherited metabolic disease 19 15617188

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