| Entrez gene ID | | 11303 |
| Official gene symbol | | Abca1 |
| Full name | | ATP-binding cassette, sub-family A (ABC1), member 1 |
| Aliases | | Abc1 |
| 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. 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. [provided by RefSeq] |
| Location | | Chromosome: 4 Locus: 4 A5-B3|4 23.1 cM |
| Gene position | | 53172767 - 53043661 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 129107 bp |
| Gene sequence |
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