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Background
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The membrane-associated protein ABCB7 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.
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Background
References
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- Allikmets, R., et al., Hum. Mol. Genet. 8(5):743-749 (1999).
- Csere, P., et al., FEBS Lett. 441(2):266-270 (1998).
- Mao, M., et al., Proc. Natl. Acad. Sci. U.S.A. 95(14):8175-8180 (1998).
- Shimada, Y., et al., J. Hum. Genet. 43(2):115-122 (1998).
- Savary, S., et al., Genomics 41(2):275-278 (1997).
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