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ATP-binding cassette, sub-family B (MDR/TAP), member 7
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| Identifiers | ||||||||||||||
| Symbols | ABCB7; ABC7; ASAT; Atm1p; EST140535 | |||||||||||||
| External IDs | OMIM: 300135 HomoloGene: 3175 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 22 | n/a | ||||||||||||
| Ensembl | ENSG00000131269 | n/a | ||||||||||||
| Uniprot | O75027 | n/a | ||||||||||||
| Refseq | NM_004299 (mRNA) NP_004290 (protein) |
n/a (mRNA) n/a (protein) |
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| Location | Chr X: 74.19 - 74.29 Mb | n/a | ||||||||||||
| Pubmed search | [1] | n/a | ||||||||||||
ATP-binding cassette, sub-family B (MDR/TAP), member 7, also known as ABCB7, is a human gene.[1]
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.[1]
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See also
References
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.
- 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:. PMID 9143506.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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:. PMID 12477932.
- 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:. PMID 12480705.
- 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:. PMID 14702039.
- 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:. PMID 15489334.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:. PMID 15772651.
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