| ABCA1 |
| LOCUS ID | 19 | ||||||||||||||||
| GENE_SYMBOL | ABCA1 | ||||||||||||||||
| GENE NAME | ATP-binding cassette sub-family A (ABC1) member 1 | ||||||||||||||||
| SYNONYMNS | TGD, ABC1, CERP, ABC-1, HDLDT1 | ||||||||||||||||
| CHROMOSOME | 9 | ||||||||||||||||
| HOMOLOGENE ID | 21130 |
| microRNAs | miR-33a | 22315319 |
| GENE SUMMARY |
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| 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] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Impaired ABCA1-mediated cholesterol export could therefore contribute to the increased atherosclerosis and nephropathy associated with diabetes. | 19965614 |
| Cardiovascular | 1. ABCA1 mutations can reduce plasma HDL levels, accelerate cardiovascular disease, and increase the risk for type 2 diabetes. Genetic manipulations of ABCA1 expression in mice also affect plasma HDL levels, inflammation, atherogenesis, and pancreatic beta cell function. Metabolites elevated in individuals with the metabolic syndrome and diabetes destabilize ABCA1 protein and decrease cholesterol export from macrophages, raising the possibility that an impaired ABCA1 pathway contributes to the enhanced atherogenesis associated with common inflammatory and metabolic disorders. The ABCA1 pathway has therefore become a promising new therapeutic target for treating cardiovascular disease and diabetes. | 19344785 |
| Atherosclerosis | 1. overexpression of ACSL1 resulted in reduced ABCA1 levels and reduced cholesterol efflux in the presence of unsaturated fatty acids | 22020260 |