Gene Symbol | ABCA1 |
Entrez Gene ID | 19 |
Full Name | ATP binding cassette subfamily A member 1 |
Synonyms | ABC-1,ABC1,CERP,HDLDT1,TGD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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 this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3) |