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Background
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The membrane-associated protein ABCB6 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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.
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Background
References
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- Mitsuhashi, N., et al., J. Biol. Chem. 275(23):17536-17540 (2000).
- Furuya, K.N., et al., Cancer Res. 57(17):3708-3716 (1997).
- Allikmets, R., et al., Hum. Mol. Genet. 5(10):1649-1655 (1996).
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