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, Primary. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include signaling 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.