| Entrez gene ID | | 19 |
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| Official gene symbol | | ABCA1 |
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| Full name | | ATP-binding cassette, sub-family A (ABC1), member 1 |
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| Aliases | | ,ABC-1,ABC1,CERP,FLJ14958,HDLDT1,MGC164864,MGC165011,TGD, |
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| 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] |
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| Location | | Chromosome: 9 Locus: 9q31.1 |
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| Gene position | | 107690436 - 107543283 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 147154 bp |
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| Gene sequence |
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| OMIM ID | | 600046 |
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