Aliases for KCNQ4 Gene
External Ids for KCNQ4 Gene
Previous HGNC Symbols for KCNQ4 Gene
Previous GeneCards Identifiers for KCNQ4 Gene
The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNQ4 Gene
KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4) is a Protein Coding gene. Diseases associated with KCNQ4 include Deafness, Autosomal Dominant 2A and Dfna2 Nonsyndromic Hearing Loss. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ5.
UniProtKB/Swiss-Prot Summary for KCNQ4 Gene
Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.