Aliases for ABCA2 Gene
External Ids for ABCA2 Gene
Previous HGNC Symbols for ABCA2 Gene
Previous GeneCards Identifiers for ABCA2 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. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCA2 Gene
ABCA2 (ATP Binding Cassette Subfamily A Member 2) is a Protein Coding gene. Diseases associated with ABCA2 include Acoustic Neuroma and Ichthyosis, Congenital, Autosomal Recessive 4B. 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 nucleotide binding and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA1.
UniProtKB/Swiss-Prot Summary for ABCA2 Gene
Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.