ABCB7

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. [provided by RefSeq, Jul 2008]

Description

ATP-binding cassette, sub-family B (MDR/TAP), member 7

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

X:q13.3 (74273115 - 74376567)

Ensembl ID

ENSG00000131269  (ver. 69.37)

Orthologs

Mouse Abcb7: ENSMUSG00000031333

Human splice variants
Mouse splice variants