基因名:
ABCA1
产品别名:
ABC-1; ABC1; CERP; HDLCQTL13; HDLDT1; HPALP1; TGD; ABCA1; ATP binding cassette subfamily A member 1; ATP binding cassette subfamily A member 1; phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter A1; ATP-binding cassette, sub-family A (ABC1), member 1; cholesterol efflux regulatory protein; membrane-bound; ATP结合盒转运蛋白A1(ABCA1); 磷酸化腺苷三磷酸结合盒转运体A1; 腺苷三磷酸结合盒转运体A1;
背景信息:
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]