| ABCA1 |
| LOCUS ID | 19 |
| GENE_SYMBOL | ABCA1 |
| GENE NAME | ATP-binding cassette sub-family A (ABC1) member |
| SYNONYMNS | TGD, ABC1, CERP, ABC-1, HDLDT1 |
| CHROMOSOME | 9 |
| HOMOLOGENE ID | 21130 |
| 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 this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq Jul 2008] |