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Antibody detects endogenous levels of total 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.
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Protein Aliases: ABC transporter 7 protein; ATP-binding cassette 7; ATP-binding cassette sub-family B member 7; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; Iron-sulfur clusters transporter ABCB7, mitochondrial
Gene Aliases: AA517758; ABC7; ABCB7; ASAT; Atm1p; AU019072; EST140535
UniProt ID: (Human) O75027, (Mouse) Q61102
Entrez Gene ID: (Human) 22, (Mouse) 11306
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