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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency.
Synonyms: ABCA1 phospho S2054, p-ABCA1 phospho S2054, ATP binding cassette transporter A1, ABC 1, ABC Transporter 1, ABC1, ABCA 1, ABCA1, ATP binding Cassette 1, ATP binding cassette sub family A ABC1 member 1, ATP binding cassette sub family A member 1, ATP binding cassette sub-family A member 1, ATP binding Cassette Transporter 1, ATP-binding Cassette 1, ATP-binding Cassette Transporter 1, CERP, Cholesterol Efflux Regulatory Protein, FLJ14958, HDLDT1, Membrane bound, MGC164864, MGC165011, TD, TGD, ABCA1_HUMAN.