Gene: ABCA1

Alternate names for this Gene: ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD

Gene Summary: 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. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.1

Description of this Gene: ATP binding cassette subfamily A member 1

Type of Gene: protein-coding

Gene: LOC105376196

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