ABCB7

ATP-binding cassette, sub-family B (MDR/TAP), member 7, also known as ABCB7, is a human gene.cite web | title = Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Allikmets R, Gerrard B, Hutchinson A, Dean M |title=Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1649–55 |year= 1997 |pmid= 8894702 |doi=
*cite journal | author=Savary S, Allikmets R, Denizot F, "et al." |title=Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. |journal=Genomics |volume=41 |issue= 2 |pages= 275–8 |year= 1997 |pmid= 9143506 |doi= 10.1006/geno.1997.4658
*cite journal | author=Shimada Y, Okuno S, Kawai A, "et al." |title=Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. |journal=J. Hum. Genet. |volume=43 |issue= 2 |pages= 115–22 |year= 1998 |pmid= 9621516 |doi=
*cite journal | author=Mao M, Fu G, Wu JS, "et al." |title=Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 14 |pages= 8175–80 |year= 1998 |pmid= 9653160 |doi=
*cite journal | author=Csere P, Lill R, Kispal G |title=Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. |journal=FEBS Lett. |volume=441 |issue= 2 |pages= 266–70 |year= 1999 |pmid= 9883897 |doi=
*cite journal | author=Allikmets R, Raskind WH, Hutchinson A, "et al." |title=Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). |journal=Hum. Mol. Genet. |volume=8 |issue= 5 |pages= 743–9 |year= 1999 |pmid= 10196363 |doi=
*cite journal | author=Zhang QH, Ye M, Wu XY, "et al." |title=Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. |journal=Genome Res. |volume=10 |issue= 10 |pages= 1546–60 |year= 2001 |pmid= 11042152 |doi=
*cite journal | author=Bekri S, Kispal G, Lange H, "et al." |title=Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. |journal=Blood |volume=96 |issue= 9 |pages= 3256–64 |year= 2000 |pmid= 11050011 |doi=
*cite journal | author=Maguire A, Hellier K, Hammans S, May A |title=X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. |journal=Br. J. Haematol. |volume=115 |issue= 4 |pages= 910–7 |year= 2002 |pmid= 11843825 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Taketani S, Kakimoto K, Ueta H, "et al." |title=Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. |journal=Blood |volume=101 |issue= 8 |pages= 3274–80 |year= 2003 |pmid= 12480705 |doi= 10.1182/blood-2002-04-1212
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ross MT, Grafham DV, Coffey AJ, "et al." |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440

External links

*

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