ABCB7

ATP-binding cassette, sub-family B (MDR/TAP), member 7
Identifiers
Symbols	ABCB7 ; ABC7; ASAT; Atm1p; EST140535
External IDs	Template:OMIM5 HomoloGene: 3175
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

ATP-binding cassette, sub-family B (MDR/TAP), member 7, also known as ABCB7, is a human gene.

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. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.

See also

• ATP-binding cassette transporter

Further reading

• Allikmets R, Gerrard B, Hutchinson A, Dean M (1997). "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. PMID 8894702.CS1 maint: Multiple names: authors list (link)
• Savary S, Allikmets R, Denizot F; et al. (1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics. 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shimada Y, Okuno S, Kawai A; et al. (1998). "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. PMID 9621516.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mao M, Fu G, Wu JS; et al. (1998). "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. PMID 9653160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Csere P, Lill R, Kispal G (1999). "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p". FEBS Lett. 441 (2): 266–70. PMID 9883897.CS1 maint: Multiple names: authors list (link)
• Allikmets R, Raskind WH, Hutchinson A; et al. (1999). "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. PMID 10196363.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang QH, Ye M, Wu XY; et al. (2001). "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. PMID 11042152.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bekri S, Kispal G, Lange H; et al. (2000). "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. PMID 11050011.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maguire A, Hellier K, Hammans S, May A (2002). "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. PMID 11843825.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Taketani S, Kakimoto K, Ueta H; et al. (2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood. 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ross MT, Grafham DV, Coffey AJ; et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ABCB7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.