ABCA5


Cholesterol transporter ABCA5 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. This encoded protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABCA family members on 17q24. 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.