Affinage

DHCR7

7-dehydrocholesterol reductase · UniProt Q9UBM7

Length
475 aa
Mass
54.5 kDa
Annotated
2026-06-09
94 papers in source corpus 19 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DHCR7 is an endoplasmic reticulum sterol reductase that catalyzes the final step of cholesterol biosynthesis, reducing the C7–C8 double bond to convert 7-dehydrocholesterol (7-DHC) to cholesterol (PMID:34098080, PMID:15464432). Substrate-specificity studies define a constrained active site that reduces 7-DHC and selected hydroxy-7DHC derivatives such as 20S(OH)7DHC and 27(OH)7DHC, while lumisterol, 8-DHC, and 7-dehydropregnenolone are not substrates and several of these instead act as inhibitors (PMID:34098080). The enzyme operates as part of a terminal cholesterol-synthesis unit through physical and functional interaction with DHCR24, with DHCR24 required for full DHCR7 activity, consistent with a substrate-channeling metabolon (PMID:25637936). DHCR7 output is controlled at multiple levels: transcriptionally by SREBP-2 acting through two cooperative sterol response elements and an NF-Y site in the promoter upon sterol depletion (PMID:25048193), post-translationally by phosphorylation at S14 downstream of AMPK and PKA (PMID:27520299), and by protein stability, as RTN3 binds DHCR7 and promotes its ubiquitination (PMID:41813657). Loss of DHCR7 function produces 7-DHC accumulation and cholesterol deficiency with cell-type-specific consequences: it impairs serotonin1A receptor ligand binding through the altered sterol structure (PMID:17493586, PMID:17904101), disrupts primary ciliogenesis and downstream WNT/β-catenin and hedgehog signaling in osteoblasts to derail craniofacial bone formation (PMID:31934493), and acts upstream of SHH and BMP2 in palatal fusion (PMID:27066502). Reduced enzymatic activity below a quantitative threshold causes Smith-Lemli-Opitz syndrome, with disease-associated missense mutations clustering in three protein domains and destabilizing the protein (PMID:15464432, PMID:11241839). Tissue-selective transgenic rescue establishes that brain-autonomous DHCR7 activity is essential for neonatal survival, reflecting the blood-brain barrier's demarcation of fetal brain cholesterol synthesis (PMID:17408495, PMID:16651660). DHCR7 also intersects innate immunity and cancer: Zika virus NS4B induces DHCR7 to suppress TBK1/IRF3 signaling and IFN-β production for immune evasion (PMID:36182074), 7-DHC accumulation activates AKT3–IRF3 neuroinflammatory signaling (PMID:38901498), and in cervical, thyroid, and myeloid malignancies DHCR7-driven cholesterol reprogramming activates PI3K/AKT, EGFR/ERK, and IL-6/JAK2/STAT3 pathways to promote tumor progression (PMID:38211648, PMID:41813657, PMID:41608869).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 2001 Medium

    Established that SLOS-associated DHCR7 missense mutations act through protein destabilization and map to defined domains, linking genotype to phenotype severity.

    Evidence Mutation expression studies and protein stability assays across patient cohorts with genotype-phenotype correlation

    PMID:11241839

    Open questions at the time
    • No structural model of the active site
    • Mechanism by which destabilization translates to residual activity not quantified
  2. 2004 Medium

    Defined a quantitative enzymatic activity threshold below which DHCR7 deficiency causes SLOS, showing activity does not track clinical severity.

    Evidence Cell-based ergosterol-conversion activity assay across patient, carrier, and control primary cells

    PMID:15464432

    Open questions at the time
    • Does not explain phenotypic variability independent of enzyme activity
    • Single lab
  3. 2006 High

    Resolved the developmental origin of brain versus peripheral cholesterol, showing the blood-brain barrier enforces autonomous fetal brain cholesterol synthesis.

    Evidence Isotopic tracing and GC-MS sterol profiling in Dhcr7-knockout fetuses across gestation

    PMID:16651660

    Open questions at the time
    • Does not identify which CNS cell types require DHCR7
    • Mechanism of barrier restriction not addressed
  4. 2007 High

    Demonstrated tissue autonomy of DHCR7 function: peripheral rescue corrects lung and liver defects but CNS activity is uniquely required for survival.

    Evidence Liver-specific transgenic complementation in Dhcr7-null mice with tissue cholesterol biochemistry and survival analysis

    PMID:17408495

    Open questions at the time
    • Does not define the brain cell type or developmental window of essentiality
    • Mechanism linking brain cholesterol to lethality unresolved
  5. 2007 Medium

    Showed that accumulated 7-DHC is functionally non-equivalent to cholesterol for membrane receptor function, providing a mechanistic basis for substrate-toxicity in deficiency.

    Evidence Cholesterol depletion/replenishment with radioligand binding of serotonin1A receptor in hippocampal membranes; replicated across two preparations

    PMID:17493586 PMID:17904101

    Open questions at the time
    • Tested for one receptor only
    • Does not establish in vivo relevance
  6. 2009 Medium

    Revealed that DHCR7 overexpression severely disrupts ER and nuclear envelope organization, indicating dosage-sensitive membrane effects.

    Evidence Live-cell imaging and electron microscopy of overexpressed DHCR7 in multiple human cell lines

    PMID:19940018

    Open questions at the time
    • Overexpression artifact versus physiological role unclear
    • Mechanism of membrane expansion not defined
  7. 2014 Medium

    Mapped transcriptional control of DHCR7 to cooperative SREBP-2 elements, embedding it in the sterol feedback response.

    Evidence Promoter-reporter assays, EMSA, and site-directed mutagenesis of SRE and NF-Y sites

    PMID:25048193

    Open questions at the time
    • Tissue-specific transcriptional regulation not addressed
    • Single lab
  8. 2015 High

    Identified DHCR24 as a physical and functional partner controlling DHCR7 activity, supporting a terminal cholesterol metabolon with substrate channeling.

    Evidence Reciprocal Co-IP, siRNA knockdown, and overexpression activity assays

    PMID:25637936

    Open questions at the time
    • Substrate channeling not directly demonstrated
    • Stoichiometry and structure of complex unknown
  9. 2016 Medium

    Established post-translational regulation of DHCR7 activity by phosphorylation at S14 via AMPK and PKA.

    Evidence Pharmacological kinase inhibition and S14 site-directed mutagenesis with cellular activity assay

    PMID:27520299

    Open questions at the time
    • Direct kinase-substrate phosphorylation not shown
    • No independent replication
  10. 2016 Medium

    Placed DHCR7 upstream of SHH and BMP2 signaling in palatogenesis, with cholesterol supplementation rescuing the pathway defects.

    Evidence RNAi knockdown in palatal shelf explants with SEM, expression analysis, and cholesterol rescue

    PMID:27066502

    Open questions at the time
    • Ex vivo culture only
    • Molecular link between cholesterol and Shh/Bmp2 expression unresolved
  11. 2020 High

    Linked DHCR7-dependent cholesterol status to primary ciliogenesis and WNT/hedgehog signaling in osteoblasts, explaining craniofacial bone defects.

    Evidence Conditional Dhcr7-knockout mouse, cilia and ciliary vesicle fusion assays, pathway reporters, and simvastatin rescue

    PMID:31934493

    Open questions at the time
    • Mechanism connecting cholesterol to ciliary vesicle fusion not detailed
    • Generalizability beyond osteoblasts untested
  12. 2021 High

    Defined the substrate and inhibitor profile of the DHCR7 active site, distinguishing true substrates from inhibitors and excluding vitamin D3 derivatives.

    Evidence In vitro microsomal enzyme assays with multiple substrates and LC-MS product detection

    PMID:34098080

    Open questions at the time
    • No atomic structure of active site
    • Performed with rat enzyme/microsomes
  13. 2022 Medium

    Uncovered a DHCR7 role in innate immune evasion, hijacked by Zika virus NS4B to suppress TBK1/IRF3 and interferon responses.

    Evidence Co-IP of NS4B-DHCR7, overexpression/knockdown, TBK1/IRF3 phosphorylation and IFN-β/ISG reporter assays

    PMID:36182074

    Open questions at the time
    • Whether immune suppression requires catalytic activity or sterol products unclear
    • Single lab
  14. 2024 Medium

    Connected DHCR7 cholesterol reprogramming to cancer progression via KANK4/PI3K/AKT signaling and VEGF-C-driven lymphangiogenesis.

    Evidence Gain/loss-of-function in vitro, xenograft models, VEGF-C ELISA, and pathway Western blotting in cervical cancer

    PMID:38211648

    Open questions at the time
    • Direct DHCR7-KANK4 mechanism not fully resolved
    • Single lab
  15. 2024 Medium

    Showed that autophagic degradation of DHCR7 drives 7-DHC accumulation and AKT3-IRF3 neuroinflammation in anesthesia-induced hippocampal injury.

    Evidence Autophagy inhibition (3-MA) in neonatal mouse and in vitro with DHCR7, 7-DHC, AKT3/IRF3 phosphorylation, and cytokine readouts

    PMID:38901498

    Open questions at the time
    • Direct mechanism of 7-DHC activating AKT3 not defined
    • Single lab
  16. 2024 Medium

    Demonstrated that DHCR7 loss disrupts axonal autophagy and lysosome balance, linking sterol dysfunction to neuronal and behavioral phenotypes.

    Evidence dhcr7-knockout zebrafish with autophagy/lysosome markers, myelination/synapse imaging, and behavioral assays

    PMID:38626530

    Open questions at the time
    • Causal link between autophagy defect and behavior not established
    • Single model organism study
  17. 2026 Medium

    Identified RTN3 as a regulator of DHCR7 stability through ubiquitination, controlling cholesterol-dependent EGFR/ERK activation in thyroid cancer.

    Evidence Co-IP, ubiquitination assay, knockdown/overexpression with pathway Western blotting, and simvastatin rescue

    PMID:41813657

    Open questions at the time
    • E3 ligase mediating ubiquitination not identified
    • Single lab
  18. 2026 Medium

    Showed DHCR7 sustains AML through cholesterol homeostasis and IL-6/JAK2/STAT3 signaling, with inhibition triggering ER stress and apoptosis.

    Evidence siRNA knockdown and tamoxifen in AML lines, cholesterol/7-DHC and ER stress markers, JAK2/STAT3 assays, NSG xenografts

    PMID:41608869

    Open questions at the time
    • Mechanism linking sterol changes to JAK2/STAT3 activation unresolved
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DHCR7's distinct downstream consequences—membrane receptor function, ciliary/hedgehog signaling, innate immunity, and oncogenic pathways—are mechanistically distinguished by 7-DHC toxicity versus cholesterol insufficiency remains unresolved.
  • No atomic structure of DHCR7 or the DHCR24 complex
  • Whether immune/oncogenic roles depend on catalysis or specific sterol species is unclear
  • The direct molecular sensors of 7-DHC accumulation are unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 2 GO:0016787 hydrolase activity 1
Localization
GO:0005783 endoplasmic reticulum 1
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1430728 Metabolism 3 R-HSA-168256 Immune System 2
Partners
DHCR24RTN3

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2015 DHCR7 physically interacts with DHCR24 (24-dehydrocholesterol reductase): the two terminal cholesterol synthesis enzymes co-immunoprecipitate, and siRNA knockdown of DHCR24 ablates DHCR7 activity, while overexpression of functional DHCR24 enhances DHCR7 activity. This suggests a cholesterol 'metabolon' with substrate channeling. Co-immunoprecipitation, siRNA knockdown, overexpression activity assays Journal of lipid research High 25637936
2016 Phosphorylation regulates DHCR7 enzymatic activity: pharmacological inhibition of AMP-activated protein kinase or protein kinase A significantly decreases DHCR7 activity, and mutation of a known phosphorylated residue (S14) also decreases activity, indicating phosphorylation is required for full catalytic function. Pharmacological kinase inhibitors, site-directed mutagenesis (S14 mutant), enzymatic activity assay in cells The Journal of steroid biochemistry and molecular biology Medium 27520299
2014 The human DHCR7 promoter is transcriptionally regulated by SREBP-2 via two binding sites (at −155 and −55) and an NF-Y cofactor site (at −136). The two SREs cooperate synergistically to activate DHCR7 transcription in response to sterol depletion. Promoter-reporter assays, electrophoretic mobility shift assay (EMSA), site-directed mutagenesis of SRE elements Biochimica et biophysica acta Medium 25048193
2009 Wild-type DHCR7 (and the related sterol reductase TM7SF2) expression in human cell lines causes massive expansion of the endoplasmic reticulum and perinuclear space, including separation of inner and outer nuclear membranes, loss of nuclear pore complexes, and formation of cytoplasmic vacuoles — demonstrating that DHCR7 overexpression can severely disrupt ER and nuclear envelope organization. Live cell imaging, electron microscopy, overexpression of wild-type DHCR7 in multiple human cell lines Molecular biology of the cell Medium 19940018
2021 Rat DHCR7 can reduce 20S(OH)7DHC and 27(OH)7DHC as substrates (removing the C7–C8 double bond), but lumisterol (L3), 8-DHC, and 7-dehydropregnenolone are not substrates — 8-DHC and 20S(OH)L3 act as inhibitors. Vitamin D3 and its hydroxy-derivatives do not inhibit DHCR7. This defines the substrate specificity and inhibitor profile of the active site. In vitro enzyme assay with rat liver microsomes, ergosterol-to-brassicasterol conversion inhibition screen, direct substrate testing by LC-MS product detection The Journal of steroid biochemistry and molecular biology High 34098080
2004 DHCR7 enzymatic activity (measured by ergosterol-to-brassicasterol conversion) is significantly reduced in fibroblasts, amniocytes, and chorionic villi from SLOS patients compared to carriers and controls, establishing a quantitative functional threshold (below ~8% conversion causes disease). Enzyme activity does not correlate with clinical severity score or plasma sterol ratios. Cell-based enzymatic activity assay (ergosterol conversion) in multiple primary cell types from patients, carriers, and controls Molecular genetics and metabolism Medium 15464432
2007 Replenishment of 7-dehydrocholesterol (7-DHC) into cholesterol-depleted native hippocampal membranes does not restore ligand binding activity of the serotonin1A receptor, despite recovering overall membrane order — demonstrating that the structural difference introduced by DHCR7 substrate accumulation (the C7–C8 double bond) is functionally distinct from cholesterol for receptor function. Cholesterol depletion/replenishment in hippocampal membranes, radioligand binding assay, membrane order measurement Biochemical and biophysical research communications Medium 17493586 17904101
2022 Zika virus non-structural protein NS4B physically interacts with DHCR7 and induces its expression. Upregulated DHCR7 in turn inhibits TBK1 and IRF3 phosphorylation, reducing IFN-β and interferon-stimulated gene production and thereby facilitating viral immune evasion. Blocking DHCR7 suppresses ZIKV infection. Co-immunoprecipitation (NS4B–DHCR7 interaction), overexpression/knockdown with DHCR7, phosphorylation assays for TBK1/IRF3, IFN-β and ISG reporter assays Virologica Sinica Medium 36182074
2020 Disruption of Dhcr7 in osteoblasts alters intracellular cholesterol status, causing abnormalities in primary cilia number and length through dysregulated ciliary vesicle fusion, which in turn impairs WNT/β-catenin and hedgehog signaling and leads to defective osteoblast differentiation and craniofacial bone formation. Simvastatin treatment rescues ciliogenesis and osteogenesis defects. Conditional Dhcr7 knockout mouse model, primary cilia imaging, ciliary vesicle fusion assay, WNT/hedgehog pathway reporters, simvastatin rescue experiment Bone research High 31934493
2007 Liver-specific transgenic restoration of DHCR7 expression in Dhcr7-null mice normalizes cholesterol levels in liver and lung (80–90% of normal) and rescues late gestational lung sacculation defects, but does not rescue brain cholesterol deficiency or neonatal lethality, demonstrating that CNS-specific DHCR7 function is essential for survival. Liver-specific transgenic complementation (ApoE promoter-driven DHCR7), tissue cholesterol biochemistry, survival analysis in Dhcr7-null mice BMC developmental biology High 17408495
2006 In Dhcr7-knockout fetuses (which cannot convert 7-DHC to cholesterol), brain cholesterol is almost entirely of fetal/local origin from ~E11–12 onward (90% at birth), whereas peripheral organ cholesterol is substantially maternal in origin early in gestation, transitioning to predominantly fetal synthesis by birth. This establishes that the blood-brain barrier demarcates autonomous fetal brain cholesterol synthesis. Isotopic tracing using Dhcr7 knockout fetuses in heterozygous mothers; sterol profiling by GC-MS across gestational ages in brain, liver, and lung Journal of lipid research High 16651660
2024 DHCR7 promotes cervical cancer lymph node metastasis via two mechanisms: (1) upregulating KANK4 and subsequently activating PI3K/AKT signaling, and (2) promoting secretion of VEGF-C to drive lymphangiogenesis. Both mechanisms require intact cholesterol reprogramming by DHCR7. DHCR7 inhibitors AY9944 and tamoxifen significantly inhibited lymph node metastasis in vivo. Gain- and loss-of-function experiments in vitro, xenograft mouse models in vivo, VEGF-C ELISA, PI3K/AKT pathway Western blotting, KANK4 interaction studies Cancer letters Medium 38211648
2024 Sevoflurane-induced autophagic degradation of DHCR7 causes accumulation of its substrate 7-DHC, which activates AKT3 and downstream IRF3-driven cytokine transcription (IL-6, TNF-α), leading to hippocampal neuroinflammation. Autophagy inhibitor 3-MA reverses DHCR7 degradation, AKT3 phosphorylation, IRF3 activation, and 7-DHC accumulation. Autophagy inhibition (3-MA) in neonatal mouse model and in vitro, DHCR7 protein quantification, 7-DHC measurement, AKT3 and IRF3 phosphorylation assays, cytokine measurements Free radical biology & medicine Medium 38901498
2016 Inhibition of DHCR7 (the enzyme converting 7-DHC to cholesterol) in palatal shelf explants by RNAi causes failure of palatal fusion, accompanied by reduced expression of Shh and Bmp2. Exogenous cholesterol supplementation restores Shh and Bmp2 expression without affecting Dhcr7 silencing, placing DHCR7 upstream of SHH and BMP2 in palatogenesis. RNAi knockdown in palatal shelf culture, scanning electron microscopy, RT-PCR/Western blot for Shh and Bmp2, cholesterol rescue experiment BioMed research international Medium 27066502
2026 RTN3 (reticulon 3) binds to DHCR7 and promotes its ubiquitination; downregulation of RTN3 stabilizes DHCR7, elevates cholesterol levels, and activates the EGFR/ERK pathway to promote thyroid cancer progression. Simvastatin (HMG-CoA reductase inhibitor) rescues the effects of RTN3 downregulation. Co-immunoprecipitation (RTN3–DHCR7), ubiquitination assay, knockdown/overexpression with pathway Western blotting, simvastatin rescue Cell death & disease Medium 41813657
2024 In dhcr7-deficient zebrafish, loss of DHCR7 function causes increased lysosomes and attenuated autophagy in axons, linking disrupted autophagy-related neuronal homeostasis to compromised myelination, synaptic anomalies, and neurotransmitter imbalances, as well as microcephaly and ADHD-like behavior. Dhcr7 knockout zebrafish (dhcr7-/-), lysosome and autophagy marker quantification, behavioral assays, myelination and synapse imaging Biochemical and biophysical research communications Medium 38626530
2001 Expression studies of DHCR7 missense mutations identified in SLOS patients demonstrated decreased protein stability for all analyzed missense mutations. Clustering of mutations in three protein domains (transmembrane domain, fourth cytoplasmic loop, C-terminus) was established, with null and 4L mutations causing severe phenotype and TM/CT mutations causing mild phenotype, defining structure–function relationships. Mutation expression studies in cell lines, protein stability assays, clinical genotype-phenotype correlation across patient cohorts Human mutation Medium 11241839
2026 DHCR7 knockdown or treatment with tamoxifen in AML cells reduces intracellular cholesterol, causes 7-DHC accumulation, induces endoplasmic reticulum stress, triggers apoptosis, and suppresses leukaemia progression in NSG mouse models. Mechanistically, DHCR7 activates the IL-6/JAK2/STAT3 signalling axis in AML. siRNA knockdown and tamoxifen treatment in AML cell lines, cholesterol and 7-DHC measurement, ER stress markers, JAK2/STAT3 phosphorylation assays, NSG mouse xenograft model British journal of haematology Medium 41608869

Source papers

Stage 0 corpus · 94 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 DHCR7: A vital enzyme switch between cholesterol and vitamin D production. Progress in lipid research 134 27697512
2006 The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. Journal of lipid research 89 16651660
2015 The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. Journal of lipid research 76 25637936
2001 Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Molecular genetics and metabolism 73 11161831
2013 DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes. BMC evolutionary biology 63 23837623
2003 Smith-Lemli-Opitz syndrome and the DHCR7 gene. Annals of human genetics 61 12914579
2007 Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. Biochemical and biophysical research communications 60 17493586
2001 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. European journal of human genetics : EJHG 57 11175299
2001 Mutations in the human DHCR7 gene. Human mutation 56 11241839
2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? American journal of medical genetics. Part A 55 16906538
2016 The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts. Journal of medicinal chemistry 53 26789657
2007 Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of medical genetics 47 17965227
2001 Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. American journal of medical genetics 43 11503168
2020 Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation. Bone research 42 31934493
2011 ANKRD55 and DHCR7 are novel multiple sclerosis risk loci. Genes and immunity 42 22130326
2009 Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. Molecular biology of the cell 41 19940018
2010 Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Molecular & cellular proteomics : MCP 38 20305089
2014 The sterol-based transcriptional control of human 7-dehydrocholesterol reductase (DHCR7): Evidence of a cooperative regulatory program in cholesterol synthesis. Biochimica et biophysica acta 34 25048193
2024 DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion. Cancer letters 33 38211648
2007 Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS. Biochemical and biophysical research communications 32 17904101
2018 Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. Toxicology and applied pharmacology 30 29698737
2022 DHCR7 promotes tumorigenesis via activating PI3K/AKT/mTOR signalling pathway in bladder cancer. Cellular signalling 28 36473621
2016 Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis. The Journal of steroid biochemistry and molecular biology 28 27520299
1994 Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. American journal of medical genetics 27 8209918
2014 A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness). Diabetologia 26 24663808
2013 Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. Biochemical pharmacology 24 23500538
2004 DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Clinical genetics 24 15521979
2017 Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure. Journal of lipid research 23 28972118
2009 A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. European journal of pediatrics 23 19365639
2006 SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. European journal of medical genetics 23 16497572
2020 Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations. Genes & nutrition 22 32169032
2005 Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Human mutation 22 15776424
2023 Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer. Journal of experimental & clinical cancer research : CR 21 36710342
2000 Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. American journal of medical genetics 18 11078571
2017 Genotypic variability based association identifies novel non-additive loci DHCR7 and IRF4 in sero-negative rheumatoid arthritis. Scientific reports 17 28706201
2004 Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. American journal of medical genetics. Part A 15 14981719
2002 Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. Molecular and cellular probes 15 12270273
2010 Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Documenta ophthalmologica. Advances in ophthalmology 14 20440536
2013 Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. Pharmacology, biochemistry, and behavior 13 23541496
2018 Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. International journal of molecular sciences 12 29300326
2010 Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. The Journal of steroid biochemistry and molecular biology 12 20804844
2005 R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. Journal of human genetics 12 16044199
1999 A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. Genetic testing 12 10627944
2022 Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection. Virologica Sinica 11 36182074
2021 Selective ability of rat 7-Dehydrocholesterol reductase (DHCR7) to act on some 7-Dehydrocholesterol metabolites but not on lumisterol metabolites. The Journal of steroid biochemistry and molecular biology 11 34098080
2007 Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. BMC developmental biology 11 17408495
1997 Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). American journal of medical genetics 11 9024559
2024 Identification and validation of DHCR7 as a diagnostic biomarker involved in the proliferation and mitochondrial function of breast cancer. Aging 10 38526324
2024 DHCR7 links cholesterol synthesis with neuronal development and axonal integrity. Biochemical and biophysical research communications 10 38626530
2019 Vitamin D Receptor Polymorphism and DHCR7 Contribute to the Abnormal Interplay Between Vitamin D and Lipid Profile in Rheumatoid Arthritis. Scientific reports 10 30796319
2009 A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. Journal of Korean medical science 10 20052364
2014 Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. Molecular genetics and metabolism reports 9 25024934
2020 Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease. The International journal of neuroscience 8 32938288
2010 Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. The Journal of steroid biochemistry and molecular biology 8 20800683
2007 Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Prenatal diagnosis 8 17441222
2004 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. Molecular genetics and metabolism 8 15464432
2017 Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. Taiwanese journal of obstetrics & gynecology 7 28805615
2005 Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. Molecular genetics and metabolism 7 15979035
2024 Autophagic degradation of DHCR7 activates AKT3 and promotes sevoflurane-induced hippocampal neuroinflammation in neonatal mice. Free radical biology & medicine 6 38901498
2022 Characterization and potential function of 7-dehydrocholesterol reductase (dhcr7) and lathosterol 5-desaturase (sc5d) in Cynoglossus semilaevis sexual size dimorphism. Gene 6 36470484
2017 Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. Human genome variation 6 28503313
2023 Effect of DHCR7 for the co-occurrence of hypercholesterolemia and vitamin D deficiency in type 2 diabetes: Perspective of health prevention. Preventive medicine 5 37329988
2023 Effect of DHCR7 on adipocyte differentiation in goats. Animal biotechnology 4 38157229
2020 Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly. JIMD reports 4 33204589
2014 Characterization of large deletions in the DHCR7 gene. Clinical genetics 4 25040602
2025 The DHCR7 is the key target of lipotoxic liver injury caused by matrine through abnormal activation of the cholesterol synthesis pathway. Toxicon : official journal of the International Society on Toxinology 3 40250732
2025 DHCR7 inhibition ameliorates MetALD and HCC in mice and human 3D liver spheroids. JHEP reports : innovation in hepatology 3 40529212
2025 DHCR7 expression, function and estrogen-induced promoter histone modification changes in chicken granulosa cells of pre-hierarchical follicles. Poultry science 3 40957294
2021 An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome. Steroids 3 33741398
2009 Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. The Journal of steroid biochemistry and molecular biology 3 19406241
2005 Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Human mutation 3 15954111
2025 Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models. Biomolecules 2 40305315
2024 Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient. Molecular syndromology 2 39119449
2024 Exploring the interplay between DHCR7, vitamin D deficiency, and type 2 diabetes mellitus (T2DM): a systematic review. Molecular biology reports 2 39503960
2016 Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression. BioMed research international 2 27066502
2009 Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. General physiology and biophysics 2 19390132
2007 Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. Journal of child neurology 2 18006960
2005 A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2 16392899
2026 DHCR7 drives AML development through the IL6/JAK2/STAT3 signalling pathway. British journal of haematology 1 41608869
2025 Cholesterol metabolism shapes immune low-response states in LUAD: a multi-omics cholesterol metabolism signature predicts immunotherapy benefit and identifies DHCR7 as a therapeutic target. Frontiers in immunology 1 41246332
2022 DBP rs7041 and DHCR7 rs3829251 are Linked to CD4+ Recovery in HIV Patients on Antiretroviral Therapy. Frontiers in pharmacology 1 35115928
2020 Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage. European journal of obstetrics, gynecology, and reproductive biology 1 32629226
2026 Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts. Genes 0 41751549
2026 Declined RTN3 stabilizes DHCR7 to induce cholesterol-dependent tumor progression and MEK inhibitors insensitivity in thyroid cancer. Cell death & disease 0 41813657
2026 DHCR7 promotes granulosa cells ferroptosis and represents a potential therapeutic target in premature ovarian insufficiency. Biochimica et biophysica acta. Molecular cell research 0 42218966
2026 OPN1SW Modulates UVB-Associated DHCR7 Reduction and Associated 25(OH)D3 and Sterol-Pool Responses in Keratinocytes. Experimental dermatology 0 42223015
2026 A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome. Molecular genetics & genomic medicine 0 42237847
2025 The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS). The Journal of steroid biochemistry and molecular biology 0 40609800
2025 Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes. Orphanet journal of rare diseases 0 40722188
2025 DHCR7 Promotes Liver Metastasis of Pancreatic Cancer Through PI3K-Akt Signaling Pathway. Cancer science 0 40897681
2025 DHCR7: from sterol biosynthesis to oncogenic role in colorectal cancer. PeerJ 0 41287848
2025 Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development. Journal of clinical medicine 0 41375871
2019 A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases. Journal of pediatric genetics 0 31406626
2001 DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. American journal of medical genetics 0 11298379

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