Entrez 22 | Ensembl ENSG00000131269 | |
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Aliases ABCB7, AA517758, AU019072, Abc7, ASAT, Atm1p, EST140535, ATP binding cassette subfamily B member 7 External IDs MGI: 109533 HomoloGene: 3175 GeneCards: ABCB7 | ||
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.
Contents
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.
Interactions
ABCB7 has been shown to interact with Ferrochelatase.