ABCB7

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.

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.

See also

• ATP-binding cassette transporter

External links

• GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
• ABCB7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ABCB7 human gene location in the UCSC Genome Browser.
• ABCB7 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.