ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism. The protein also carries the Lan antigen, which defines the Lan blood group system.
See also
- ATP-binding cassette transporter
References
Further reading
External links
- ABCB6 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ABCB6 human gene location in the UCSC Genome Browser.
- ABCB6 human gene details in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9NP58 (ATP-binding cassette sub-family B member 6, mitochondrial) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
