Biology:ABCB7
 Generic protein structure example |
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]
Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.
Clinical significance
Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.[2]
Interactions
ABCB7 has been shown to interact with Ferrochelatase.[3]
See also
References
- ↑ "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics 41 (2): 275–8. July 1997. doi:10.1006/geno.1997.4658. PMID 9143506.
- ↑ 2.0 2.1 "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22.
- ↑ "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood 101 (8): 3274–80. April 2003. doi:10.1182/blood-2002-04-1212. PMID 12480705.
Further reading
- "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.". Hum. Mol. Genet. 5 (10): 1649–55. 1997. doi:10.1093/hmg/5.10.1649. PMID 8894702.
- "Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.". J. Hum. Genet. 43 (2): 115–22. 1998. doi:10.1007/s100380050051. PMID 9621516.
- "Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 95 (14): 8175–80. 1998. doi:10.1073/pnas.95.14.8175. PMID 9653160. Bibcode: 1998PNAS...95.8175M.
- "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p". FEBS Lett. 441 (2): 266–70. 1999. doi:10.1016/S0014-5793(98)01560-9. PMID 9883897.
- "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)". Hum. Mol. Genet. 8 (5): 743–9. 1999. doi:10.1093/hmg/8.5.743. PMID 10196363.
- "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. 2001. doi:10.1101/gr.140200. PMID 11042152.
- "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation". Blood 96 (9): 3256–64. 2000. doi:10.1182/blood.V96.9.3256. PMID 11050011.
- "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L". Br. J. Haematol. 115 (4): 910–7. 2002. doi:10.1046/j.1365-2141.2001.03015.x. PMID 11843825.
- "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood 101 (8): 3274–80. 2003. doi:10.1182/blood-2002-04-1212. PMID 12480705.
External links
- GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
- ABCB7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- ABCB7 human gene location in the UCSC Genome Browser.
- ABCB7 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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