Affinage

ABCB7

Iron-sulfur clusters transporter ABCB7, mitochondrial · UniProt O75027

Length
752 aa
Mass
82.6 kDa
Annotated
2026-04-28
48 papers in source corpus 23 papers cited in narrative 23 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ABCB7 is a mitochondrial inner membrane ABC half-transporter that exports glutathione-coordinated [2Fe-2S] cluster precursors from the matrix to the cytosol, thereby enabling the maturation of cytosolic iron-sulfur proteins and maintaining cellular iron homeostasis (PMID:10406803, PMID:25556595, PMID:32337520). It functions as a homodimer whose ATPase activity is specifically stimulated by thiol-containing substrates, particularly glutathione-coordinated [2Fe-2S] clusters, driving a closed→open→closed conformational transport cycle (PMID:16754360, PMID:24584132, PMID:32337520). ABCB7 physically complexes with ferrochelatase and ABCB10 to coordinate heme biosynthesis with Fe/S cluster export; its loss causes mitochondrial iron overload, activation of IRP1/2, impaired heme synthesis, and downstream defects in erythropoiesis, B cell development, and DNA replication (PMID:30765471, PMID:34762046, PMID:17192398). Mutations in ABCB7 cause X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A), and SF3B1 mutations in myelodysplastic syndrome downregulate ABCB7 through aberrant splicing and nonsense-mediated decay, jointly contributing to ring sideroblast formation (PMID:10196363, PMID:27211273, PMID:34861039).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1997 High

    Establishing that the ABCB7 ortholog Atm1p resides on the mitochondrial inner membrane and is required for mitochondrial iron homeostasis answered the foundational question of where and why this transporter functions — its deletion caused massive mitochondrial iron accumulation and oxidative stress.

    Evidence ATM1 gene disruption in yeast with cytochrome analysis, iron quantification, and oxidative stress assays

    PMID:9428742

    Open questions at the time
    • Transported substrate unknown
    • Mechanism linking transporter loss to iron accumulation unresolved
    • Human ortholog not yet studied
  2. 1999 High

    Epistasis analysis in yeast revealed that Atm1p specifically exports Fe/S cluster precursors from the mitochondrial matrix to the cytosol, distinguishing its role from general iron transport and placing it upstream of cytosolic Fe/S protein assembly.

    Evidence Yeast Δatm1 and Δnfs1 mutants with compartment-specific Fe/S protein activity assays and genetic complementation

    PMID:10406803

    Open questions at the time
    • Chemical identity of the exported Fe/S precursor unknown
    • Transport mechanism (direct vs. indirect) unresolved
  3. 1998 High

    Demonstrating that human ABCB7 localizes to mitochondria and functionally complements yeast Δatm1 established cross-species conservation and validated ABCB7 as the human ortholog mediating the same Fe/S export function.

    Evidence Immunostaining and yeast complementation with cytochrome, iron, and glutathione measurements

    PMID:9883897

    Open questions at the time
    • Endogenous human loss-of-function phenotype not yet defined
    • Substrate specificity not tested
  4. 1999 High

    Identification of the I400M and subsequently E433K mutations as causes of X-linked sideroblastic anemia with ataxia (XLSA/A), validated by loss-of-function in yeast complementation, linked ABCB7 to human disease and pinpointed functionally critical transmembrane and cytoplasmic residues.

    Evidence Patient mutation screening with yeast complementation of Δatm1 using wild-type and mutant ABCB7, Fe/S protein activity assays

    PMID:10196363 PMID:11050011

    Open questions at the time
    • Structural basis for how these mutations impair transport unknown
    • Full allelic spectrum of XLSA/A mutations not characterized
  5. 2002 High

    Discovery that ABCB7 physically interacts with ferrochelatase and promotes heme production linked Fe/S cluster export to the terminal step of heme biosynthesis, suggesting functional coupling between these two mitochondrial pathways.

    Evidence In vitro and in vivo pull-down assays, colocalization, antisense knockdown, and overexpression in MEL cells

    PMID:12480705

    Open questions at the time
    • Stoichiometry and architecture of the complex unknown
    • Whether ABCB7 directly supplies Fe/S to ferrochelatase or acts indirectly unresolved
  6. 2004 Medium

    Demonstrating that Atm1p functions as a homodimer dependent on Walker A/B-mediated ATP binding and hydrolysis established the basic enzymology — the transporter operates via a canonical ABC mechanism requiring nucleotide-driven dimerization.

    Evidence In vivo yeast mutagenesis of Walker A/B motifs with dimerization and functional analysis

    PMID:15225610

    Open questions at the time
    • No purified protein ATPase kinetics yet
    • Conformational cycle during transport not defined
    • Single lab without independent replication
  7. 2006 High

    Purified Atm1p reconstituted into proteoliposomes revealed that its ATPase activity is specifically stimulated by thiol-containing compounds, narrowing the transported substrate to a sulfhydryl-rich species — while conditional knockout in mice and knockdown in human cells confirmed that ABCB7 loss causes mitochondrial iron overload, impaired cytosolic Fe/S maturation, and hematopoietic failure.

    Evidence In vitro ATPase assay with substrate panel in proteoliposomes; Cre/loxP conditional deletion in mouse liver and hematopoietic cells; siRNA in HeLa with iron quantification and enzyme activity assays

    PMID:16467350 PMID:16754360 PMID:17192393 PMID:17192398

    Open questions at the time
    • Exact chemical identity of the physiological substrate still unresolved
    • Transport directionality not directly demonstrated in reconstituted system
  8. 2014 High

    Identification of the glutathione-coordinated [2Fe-2S] cluster as the substrate that stimulates Atm1p ATPase activity (KD ~68 μM) and direct demonstration of its translocation across proteoliposome membranes resolved the long-standing question of substrate identity.

    Evidence ATPase stimulation assay, KD determination, flow cytometry and colorimetric metal translocation in proteoliposomes

    PMID:24584132 PMID:25556595

    Open questions at the time
    • Whether additional substrates are transported in vivo unknown
    • Structural basis for substrate recognition not determined
  9. 2016 High

    Discovery that mutant SF3B1 causes aberrant splicing and NMD-mediated degradation of ABCB7 mRNA explained how ABCB7 downregulation contributes to ring sideroblast formation in MDS, extending the gene's disease relevance beyond Mendelian XLSA/A.

    Evidence RNA-seq, CRISPR/Cas9 SF3B1-mutant cell line, NMD inhibitor treatment, RT-PCR splice variant analysis

    PMID:27211273

    Open questions at the time
    • Whether ABCB7 downregulation alone is sufficient for ring sideroblasts not tested
    • Contribution of other misspliced genes not excluded
  10. 2019 High

    Crosslinking mass spectrometry defined a tripartite complex of ABCB7–ferrochelatase–ABCB10 bridged by ferrochelatase, and showed that ABCB7 knockdown first depletes mitochondrial Fe/S proteins before affecting cytosolic ones, activates IRP1/2, and impairs heme synthesis through ALAS2 translational repression and ferrochelatase destabilization.

    Evidence Chemical crosslinking tandem mass spectrometry, inducible ABCB7-knockdown cell lines, mutational analysis, IRP activity and hemoglobinization assays

    PMID:30765471

    Open questions at the time
    • High-resolution structure of the tripartite complex lacking
    • Whether ABCB7 exports substrate directly to ferrochelatase within the complex unknown
  11. 2020 High

    Mechanistic dissection of the transport cycle showed that glutathione-[2Fe-2S] binding recruits MgATP, promoting a closed-to-open conformational transition via coupling helices, with ATP hydrolysis driving return to the closed state — defining the complete conformational cycle.

    Evidence Biochemical assays of Atm1p with cluster substrate, conformational and ATPase mechanistic analysis

    PMID:32337520

    Open questions at the time
    • No cryo-EM or crystal structure of human ABCB7 in substrate-bound state
    • Role of coupling helices not confirmed by structural data
  12. 2021 High

    Conditional deletion in B cells revealed that ABCB7 is required for B lymphocyte development at the pro-B stage, proliferation, and class switch recombination — loss causes replication-induced DNA damage and slowed replication, broadening ABCB7's physiological role beyond erythropoiesis.

    Evidence Conditional deletion using Mb1-cre and CD23-cre in mice, flow cytometry, DNA damage markers, proliferation assays

    PMID:34762046

    Open questions at the time
    • Which cytosolic Fe/S enzyme deficiency causes replication stress not identified
    • Whether other rapidly dividing cell types are similarly affected unknown
  13. 2022 High

    Genetic rescue in an iPSC model of SF3B1-mutant MDS demonstrated that co-restoration of both ABCB7 and TMEM14C is required to prevent ring sideroblast formation, establishing that coordinated missplicing of two mitochondrial transporters jointly drives the MDS phenotype.

    Evidence iPSC-derived erythroid differentiation with individual and combined rescue of ABCB7 and TMEM14C, ring sideroblast quantification

    PMID:34861039

    Open questions at the time
    • Whether additional SF3B1 missplicing targets contribute to disease not excluded
    • Mechanism by which TMEM14C cooperates with ABCB7 at the substrate level undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • A high-resolution structure of human ABCB7 in substrate-bound and nucleotide-bound states is needed to define the molecular basis of substrate recognition, the structural effects of XLSA/A mutations, and the architecture of the ABCB7–ferrochelatase–ABCB10 complex.
  • No cryo-EM or crystal structure of human ABCB7 available
  • Identity of all physiological substrates beyond GS-[2Fe-2S] not established
  • Mechanism linking Fe/S cluster deficiency to DNA replication stress unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 5 GO:0140657 ATP-dependent activity 4
Localization
GO:0005739 mitochondrion 6
Pathway
R-HSA-1430728 Metabolism 6 R-HSA-382551 Transport of small molecules 5 R-HSA-1643685 Disease 4 R-HSA-168256 Immune System 1
Partners
ABCB10FECHIRP1IRP2TMEM14C
Complex memberships
ABCB7 homodimerABCB7–ferrochelatase–ABCB10 complex

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 Yeast Atm1p (ABCB7 ortholog) localizes to the mitochondrial inner membrane and is required for mitochondrial iron homeostasis; deletion causes 30-fold accumulation of mitochondrial free iron, loss of heme-containing protein holoforms, and hypersensitivity to oxidative stress despite normal heme synthesis and transport. ATM1 gene disruption in yeast, cytochrome analysis, iron quantification, glutathione measurement, oxidative stress assays FEBS letters High 9428742
1999 Mitochondrial Atm1p (ABCB7 ortholog) performs an essential function specifically in the export of Fe/S cluster precursors from the mitochondrial matrix to the cytosol, enabling biogenesis of cytosolic Fe/S proteins; the matrix-localized cysteine desulfurase Nfs1p initiates this pathway by producing elemental sulfur. Yeast deletion mutants (Δatm1, Δnfs1), genetic complementation, Fe/S protein activity assays in mitochondrial and cytosolic fractions The EMBO journal High 10406803
1998 Human ABC7 (ABCB7) protein localizes to mitochondria and functionally complements yeast Δatm1 cells, restoring normal cytochrome levels, mitochondrial iron content, and glutathione levels, establishing it as the functional ortholog of yeast Atm1p. Immunostaining with specific antibody, yeast complementation assay, cytochrome analysis, iron and glutathione measurements FEBS letters High 9883897
1999 A missense mutation I400M in the ABC7 gene (ABCB7), located in a predicted transmembrane segment, causes X-linked sideroblastic anemia with ataxia (XLSA/A); the corresponding mutation introduced into yeast ATM1 causes partial loss of function, and human wild-type ABC7 complements ATM1 deletion. Patient mutation screening, yeast complementation with wild-type and mutant protein, disease segregation analysis Human molecular genetics High 10196363
2000 A glutamate-to-lysine charge inversion mutation at residue E433 (E433K) of ABCB7 causes XLSA/A by impairing cytosolic Fe/S protein maturation; wild-type ABCB7 almost fully complements Δatm1 yeast, whereas E433K mutant protein has markedly reduced ability to support cytosolic Fe/S assembly. Patient mutation identification (G→A at nt 1305), yeast complementation of Δatm1 cells with wild-type vs. mutant ABCB7, Fe/S protein activity assays Blood High 11050011
2002 ABCB7 physically interacts with the C-terminal iron-sulfur cluster-containing region of ferrochelatase (the last enzyme in heme biosynthesis); ABCB7 colocalizes with ferrochelatase in mitochondria, and its overexpression increases ferrochelatase activity and promotes heme production during erythroid differentiation. In vitro and in vivo pull-down assays, immunostaining colocalization, antisense oligonucleotide knockdown of heme measurement, stable overexpression in MEL cells Blood High 12480705
2004 Atm1p (ABCB7 ortholog) functions as a homodimer; conserved Walker A and B motif residues required for ATP binding and hydrolysis are essential for Atm1p function, and ATP binding is important for homodimerization. In vivo yeast mutagenesis of Walker A/B motifs, dimerization analysis FEBS letters Medium 15225610
2006 Mouse Abcb7 is essential in extra-embryonic tissues and in numerous cell types; conditional hepatic deletion impairs cytosolic Fe/S cluster assembly, causing loss of IRP1 regulation, dysregulation of iron regulatory protein 1 activity, and hepatocyte iron metabolic disturbance without lethality. Inducible Cre/loxP deletion of Abcb7 exons 9–10, X-chromosome inactivation assays, tissue-specific deletions, IRP1 activity assay, iron metabolism studies Human molecular genetics High 16467350
2006 siRNA silencing of ABCB7 in HeLa cells causes ~6-fold mitochondrial iron accumulation, reduced cytosolic aconitase (IRP1) activity, increased protoporphyrin IX, and reduced mitochondrial superoxide dismutase 2 activity, supporting a role for ABCB7 in transferring iron from mitochondria to cytosol and maturing cytosolic Fe/S enzymes. Sequential siRNA transfection, iron quantification (mitochondrial fractionation), aconitase activity assay, SOD2 activity assay, H2O2 sensitivity assay Blood High 17192393
2006 Abcb7 is essential for hematopoiesis; partial loss-of-function mutations directly or indirectly inhibit heme biosynthesis, causing the sideroblastic anemia phenotype of XLSA/A. Conditional Abcb7 deletion in hematopoietic cells (mouse model), heme biosynthesis assays Blood High 17192398
2006 Purified Atm1p (ABCB7 ortholog) reconstituted into proteoliposomes exhibits stable ATPase activity (Km ~0.1 mM, turnover ~127 min⁻¹) that is inhibited by vanadate; this ATPase activity is specifically stimulated 3–5-fold by thiol-containing compounds, particularly cysteine thiols in peptides, suggesting the physiological substrate contains multiple sulfhydryl groups. E. coli expression and purification of Atm1p, reconstitution into proteoliposomes, in vitro ATPase activity assay with substrate panel, vanadate inhibition Molecular membrane biology High 16754360
2008 abcb7 mutation in medaka fish causes abnormal iron metabolism in erythrocytes and lipid accumulation in the liver, with dysregulation of iron and lipid metabolism gene expression, revealing a role for Abcb7 in liver development and function. Positional cloning, mutagenesis screen, microarray gene expression, in situ hybridization in medaka Development, growth & differentiation Medium 19046159
2011 Loss of C. elegans abtm-1 (ABCB7 ortholog) causes accumulation of ferric iron, increased oxidative stress, and embryonic morphogenetic defects with premature cell death; DAF-16/FOXO nuclear accumulation and SOD-3 upregulation extend lifespan in abtm-1 mutants. C. elegans mutant and RNAi, ferric iron staining, oxidative stress assays, DAF-16::GFP localization, SOD-3 expression, lifespan assay The Journal of biological chemistry Medium 21464130
2014 Glutathione-complexed [2Fe-2S] cluster significantly stimulates the ATPase activity of an ABCB7-type transporter (KD ~68 μM in proteoliposome-bound form), identifying the glutathione-coordinated Fe/S cluster as a likely natural substrate; a substrate-binding site was identified on a structural model of the active transporter. ATPase stimulation assay in solution and proteoliposome-bound forms, structural modeling, KD determination Chemical communications (Cambridge, England) High 24584132
2015 The glutathione-coordinated [2Fe-2S] cluster is a viable physiological substrate for mitochondrial ABCB7/Atm1p transport, demonstrated by quantitative flow cytometry and colorimetric assays of metal translocation in proteoliposomes. Flow cytometry, colorimetric metal translocation assay, proteoliposome reconstitution Chemical communications (Cambridge, England) High 25556595
2016 Mutant SF3B1 causes aberrant splicing of ABCB7 via usage of an alternative 3' splice site, generating a premature termination codon; the aberrantly spliced ABCB7 mRNA is degraded by nonsense-mediated decay (NMD), leading to ABCB7 downregulation and mitochondrial iron accumulation in MDS with ring sideroblasts. RNA sequencing, CRISPR/Cas9-generated SF3B1 mutant cell line, NMD inhibitor (cycloheximide) treatment, RT-PCR splice variant analysis Leukemia High 27211273
2019 ABCB7 forms a defined multiprotein complex with dimeric ferrochelatase and ABCB10 homodimers; ferrochelatase physically bridges ABCB7 and ABCB10 by binding near the nucleotide-binding domains of each transporter. Knockdown of ABCB7 preferentially depletes mitochondrial Fe/S proteins before causing cytosolic Fe/S defects, activates IRP1/2, upregulates mitoferrin-1, and causes defective heme biosynthesis via translational repression of ALAS2 and decreased ferrochelatase stability. Inducible ABCB7-knockdown cell lines, chemical crosslinking, tandem mass spectrometry, mutational analysis, iron distribution assays, IRP activity, hemoglobinization measurement Haematologica High 30765471
2019 ABCB7 knockdown in cardiomyocytes (H9C2 cells) increases ROS, ferritin and transferrin receptor expression, and iron overload in both mitochondria and cytoplasm; ABCB7 was found to interact with mitochondrial complexes IV and V. ABCB7 overexpression rescues these changes in pressure-overload cardiac hypertrophy. ABCB7 siRNA knockdown in H9C2 cells, ABCB7 overexpression rescue, angiotensin II stimulation, ROS measurement, iron quantification, co-immunoprecipitation with mitochondrial complexes IV and V Scientific reports Medium 31511561
2019 ABCB7 reduces mitochondrial reactive oxygen species to suppress non-apoptotic cell death, and promotes HIF1α accumulation (independent of hypoxia) by controlling intracellular iron homeostasis, which suppresses apoptosis via inhibition of leucine zipper downregulated in cancer 1 (LDOC1) and maintenance of NF-κB signaling. ABCB7 knockdown and overexpression in cancer cells, mitochondrial ROS measurement, HIF1α and LDOC1 protein quantification, NF-κB signaling assays, flow cytometry for cell death Oncogene Medium 31772327
2020 Recruitment of MgATP following glutathione-complexed [2Fe-2S] cluster binding to Atm1p/ABCB7 promotes a structural transition from closed to open conformations mediated by coupling helices; MgATP hydrolysis facilitates return to the closed state, defining the transport cycle mechanism. Biochemical assays of yeast Atm1p with cluster substrate, conformational analysis, ATPase assays with mechanistic dissection Metallomics : integrated biometal science High 32337520
2020 Residue E433 of human ABCB7 plays a key role in promoting Fe/S cluster transport; the E433K disease-causing mutation impairs cluster export, demonstrated by functional comparison of wild-type vs. mutant ABCB7 in transport assays. ABCB7 evolved from bacterial heavy metal transporters that utilize metal-glutathione adducts. Functional transport assay comparing native vs. E433K mutant ABCB7, BLAST evolutionary analysis Archives of biochemistry and biophysics Medium 33157103
2021 ABCB7 is required for bone marrow B cell development (conditional deletion causes block at pro-B cell stage), proliferation, and class switch recombination; loss of ABCB7 causes replication-induced DNA damage and slowed DNA replication in pro-B cells, independent of VDJ recombination, without triggering ferroptosis or apoptosis. Conditional deletion using Mb1-cre and CD23-cre, B cell development analysis by flow cytometry, intracellular iron measurement, ROS measurement, DNA damage markers, proliferation assays eLife High 34762046
2022 Mutant SF3B1 induces coordinated missplicing of both TMEM14C and ABCB7 (reducing protein expression via 5' UTR alteration), and functional rescue of both TMEM14C and ABCB7 together markedly decreases ring sideroblast formation; rescue of either alone is insufficient, demonstrating that both mitochondrial transporters jointly prevent mitochondrial iron sequestration. iPSC model of SF3B1-mutant MDS, in vitro erythroid differentiation recapitulating ring sideroblasts, rescue overexpression of TMEM14C and/or ABCB7, ring sideroblast quantification, translation efficiency assay Blood High 34861039

Source papers

Stage 0 corpus · 48 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. The EMBO journal 561 10406803
1999 Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Human molecular genetics 324 10196363
1997 The ABC transporter Atm1p is required for mitochondrial iron homeostasis. FEBS letters 230 9428742
2000 Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood 198 11050011
2006 The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Human molecular genetics 173 16467350
2006 RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood 134 17192393
2006 Towards multilocus sequence typing of the Leishmania donovani complex: resolving genotypes and haplotypes for five polymorphic metabolic enzymes (ASAT, GPI, NH1, NH2, PGD). International journal for parasitology 130 16725143
2006 Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood 120 17192398
2016 Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes. Leukemia 119 27211273
1998 Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS letters 107 9883897
2008 The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PloS one 99 18398482
2007 Role of transferrin receptor and the ABC transporters ABCB6 and ABCB7 for resistance and differentiation of tumor cells towards artesunate. PloS one 91 17726528
2012 The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. Leukemia 82 23070040
2002 Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. Blood 76 12480705
2022 Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome. Blood 74 34861039
2006 Stimulation of the ATPase activity of the yeast mitochondrial ABC transporter Atm1p by thiol compounds. Molecular membrane biology 63 16754360
2015 Glutathione-coordinated [2Fe-2S] cluster: a viable physiological substrate for mitochondrial ABCB7 transport. Chemical communications (Cambridge, England) 59 25556595
2001 X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. British journal of haematology 51 11843825
2019 Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. Haematologica 44 30765471
2014 A structural model for glutathione-complexed iron-sulfur cluster as a substrate for ABCB7-type transporters. Chemical communications (Cambridge, England) 38 24584132
2019 Chronic Pressure Overload Results in Deficiency of Mitochondrial Membrane Transporter ABCB7 Which Contributes to Iron Overload, Mitochondrial Dysfunction, Metabolic Shift and Worsens Cardiac Function. Scientific reports 33 31511561
2012 X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 33 22398176
1995 Health-based reference intervals for ALAT, ASAT and GT in serum, measured according to the recommendations of the European Committee for Clinical Laboratory Standards (ECCLS). Scandinavian journal of clinical and laboratory investigation 33 7638558
2019 ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1α-driven NFκB signaling. Oncogene 32 31772327
1983 Comparison of ASAT, CK, CK-MB, and LD for the estimation of acute myocardial infarct size in man. Clinica chimica acta; international journal of clinical chemistry 31 6851141
2015 Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. European journal of human genetics : EJHG 25 26242992
2020 Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation. Archives of biochemistry and biophysics 23 33157103
2020 Defining the mechanism of the mitochondrial Atm1p [2Fe-2S] cluster exporter. Metallomics : integrated biometal science 22 32337520
2011 Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans. The Journal of biological chemistry 22 21464130
2004 The mitochondrial ABC transporter Atm1p functions as a homodimer. FEBS letters 21 15225610
1987 A circulating complex between ASAT and IgG in serum in an apparently healthy woman. Clinica chimica acta; international journal of clinical chemistry 18 3581478
2011 Leucine biosynthesis regulates cytoplasmic iron-sulfur enzyme biogenesis in an Atm1p-independent manner. The Journal of biological chemistry 17 21926174
2021 The mitochondrial iron transporter ABCB7 is required for B cell development, proliferation, and class switch recombination in mice. eLife 16 34762046
1997 In situ detection of myocardial infarction in pig by measurements of aspartate aminotransferase (ASAT) activity in the interstitial fluid. Scandinavian cardiovascular journal : SCJ 16 9455783
1979 Selenium and vitamin E deficiency in pigs. II. Influence on plasma selenium, vitamin E, ASAT and ALAT and on tissue selenium. Acta veterinaria Scandinavica 12 484408
2011 Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13). International journal of hematology 11 21380928
2008 Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fish. Development, growth & differentiation 11 19046159
2023 Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling. Archives of biochemistry and biophysics 9 37142077
2009 [Macroenzymes: macro-ASAT and macro-CPK. Two cases and literature review]. La Revue de medecine interne 7 19740578
2005 Mitochondrial ABC transporter Atm1p is required for protection against oxidative stress and vacuolar functions in Schizosaccharomyces pombe. Bioscience, biotechnology, and biochemistry 7 16306692
2006 Characterization of Saccharomyces cerevisiae Atm1p: functional studies of an ABC7 type transporter. Biochimica et biophysica acta 6 16963188
2015 An investigation into the content validity of the Antimicrobial Self-Assessment Toolkit for NHS Trusts (ASAT v15a) using cognitive interviews with antimicrobial pharmacists. Journal of clinical pharmacy and therapeutics 5 25678341
1978 Accurate determination of serum ASAT isoenzymes. Acta medica Scandinavica. Supplementum 4 282783
2019 The ABCB7-Like Transporter PexA in Rhodobacter capsulatus Is Involved in the Translocation of Reactive Sulfur Species. Frontiers in microbiology 3 30918498
1987 Experimental basis of standardized specimen collection: the effect of moderate ethanol consumption on some serum components (K, Na, ASAT, ALAT, CK, LD, total protein). Scandinavian journal of clinical and laboratory investigation 3 3602912
1981 [Serum enzyme alterations during diabetic ketoacidosis. Prospective study of the behaviour of AP, AsAT, AIAT, and GGPT in 24 cases (author's transl)]. Medicina clinica 2 6120268
1989 [The fermentation diagnosis and histologic studies in blood and the liver of surviving rats after 1 and 2 administrations of a median toxic dose of parathion methyl. 1. Results of studies on the activities of the plasma enzymes AlAT, AsAT, AP, and gamma-GT]. Archiv fur experimentelle Veterinarmedizin 1 2570558
2025 The YY1-ABCB7 regulatory Axis is associated with malignant progression and ferroptosis sensitivity in lung adenocarcinoma. Journal of molecular histology 0 40767887