Aliases for ABCA12 Gene
External Ids for ABCA12 Gene
Previous HGNC Symbols for ABCA12 Gene
Previous GeneCards Identifiers for ABCA12 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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCA12 Gene
ABCA12 (ATP Binding Cassette Subfamily A Member 12) is a Protein Coding gene. Diseases associated with ABCA12 include Ichthyosis, Congenital, Autosomal Recessive 4B and Ichthyosis, Congenital, Autosomal Recessive 4A. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation 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 signaling receptor binding and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA13.
UniProtKB/Swiss-Prot Summary for ABCA12 Gene
Probable transporter involved in lipid homeostasis.