Aliases for ABCA3 Gene
External Ids for ABCA3 Gene
Previous HGNC Symbols for ABCA3 Gene
Previous GeneCards Identifiers for ABCA3 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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCA3 Gene
ABCA3 (ATP Binding Cassette Subfamily A Member 3) is a Protein Coding gene. Diseases associated with ABCA3 include Surfactant Metabolism Dysfunction, Pulmonary, 3 and Primary Interstitial Lung Disease Specific To Childhood Due To Pulmonary Surfactant Protein Anomalies. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA1.
UniProtKB/Swiss-Prot Summary for ABCA3 Gene
Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.