ABCA5


ATP-binding cassette, sub-family A, member 5 is a protein that in humans is encoded by the ABCA5 gene.

Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette transporters. ABC proteins transport various molecule across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies. This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. .

Clinical significance

Mutations in ABCA5 cause excessive hair overgrowth.