| Gene Symbol |
ABCA1
|
| Gene Synonyms |
TGD ABC1 CERP ABC-1 HDLDT1 HPALP1 HDLCQTL13 |
| Gene Full Name |
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] |
| Alternative Names |
ABC 1 ABC Transporter 1 ABC-1 ABC1 ABCA 1 ABCA1 ABCA1_HUMAN ATP binding Cassette 1 ATP binding cassette sub family A ABC1 member 1 ATP binding cassette sub family A member 1 ATP binding Cassette Transporter 1 ATP-binding cassette 1 ATP-binding cassette sub-family A member 1 ATP-binding cassette transporter 1 CERP Cholesterol efflux regulatory protein FLJ14958 HDLDT1 Membrane bound MGC164864 MGC165011 TD TGD
|
| Molecular Weight(MW) |
254 kDa |
| Cellular Localization |
Cell membrane,Endosome,Membrane. |