This is an old revision of this page, as edited by ProteinBoxBot(talk | contribs) at 05:53, 19 May 2016(Updating to new gene infobox populated via wikidata). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.
Revision as of 05:53, 19 May 2016 by ProteinBoxBot(talk | contribs)(Updating to new gene infobox populated via wikidata)
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7gene.[5][6]
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.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 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. PMID9143506.
^Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 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. PMID12480705.
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. doi:10.1093/hmg/5.10.1649. PMID8894702.
Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E (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. doi:10.1007/s100380050051. PMID9621516.
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. doi:10.1016/S0014-5793(98)01560-9. PMID9883897.
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM (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. doi:10.1093/hmg/8.5.743. PMID10196363.
Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF (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. PMID11050011.
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. doi:10.1046/j.1365-2141.2001.03015.x. PMID11843825.
Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (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. PMID12480705.
