Aliases for ABCB7 Gene
External Ids for ABCB7 Gene
Previous HGNC Symbols for ABCB7 Gene
Previous GeneCards Identifiers for ABCB7 Gene
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 associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
GeneCards Summary for ABCB7 Gene
ABCB7 (ATP Binding Cassette Subfamily B Member 7) is a Protein Coding gene. Diseases associated with ABCB7 include Anemia, Sideroblastic, And Spinocerebellar Ataxia and Sideroblastic Anemia. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include ATPase activity and heme transporter activity. An important paralog of this gene is ABCB6.
UniProtKB/Swiss-Prot Summary for ABCB7 Gene
Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.