Aliases for ABCA1 Gene
External Ids for ABCA1 Gene
Previous HGNC Symbols for ABCA1 Gene
Previous GeneCards Identifiers for ABCA1 Gene
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]
GeneCards Summary for ABCA1 Gene
ABCA1 (ATP Binding Cassette Subfamily A Member 1) is a Protein Coding gene. Diseases associated with ABCA1 include Tangier Disease and Hypoalphalipoproteinemia. Among its related pathways are Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include receptor binding and phospholipid binding. An important paralog of this gene is ABCA4.
UniProtKB/Swiss-Prot for ABCA1 Gene
cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.