ABCB7
Template:Short description Template:Cs1 config Template:Infobox gene ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.[1][2]
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.[2]
Interactions
ABCB7 has been shown to interact with Ferrochelatase.[3]
See also
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Template:UCSC genome browser
- Template:UCSC gene details
This article incorporates text from the United States National Library of Medicine, which is in the public domain.