Aliases for ASIC4 Gene
External Ids for ASIC4 Gene
Previous HGNC Symbols for ASIC4 Gene
Previous GeneCards Identifiers for ASIC4 Gene
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
GeneCards Summary for ASIC4 Gene
ASIC4 (Acid Sensing Ion Channel Subunit Family Member 4) is a Protein Coding gene. Diseases associated with ASIC4 include Paroxysmal Dystonia and Branchiootic Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium ion transmembrane transporter activity. An important paralog of this gene is ASIC1.
UniProtKB/Swiss-Prot Summary for ASIC4 Gene
Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity.
Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.