Protein Name | ATP binding cassette subfamily A member 1 |
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Organism | Homo sapiens |
Gene ID | 19 |
Gene Symbol | ABCA1 |
UniProt | O95477 (ABCA1_HUMAN), B7XCW9 (B7XCW9_HUMAN), A0A7I2V5U0 (A0A7I2V5U0_HUMAN), B2RUU2 (B2RUU2_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
574
Total Number of Articles : 1502 |
Description |
ATP binding cassette subfamily A member 1 |
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 both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019] |
synonyms |
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Properties | |