Entrez 9132 | Ensembl ENSG00000117013 | |
Aliases KCNQ4, DFNA2, DFNA2A, KV7.4, potassium voltage-gated channel subfamily Q member 4 External IDs MGI: 1926803 HomoloGene: 78107 GeneCards: KCNQ4 | ||
Potassium voltage-gated channel subfamily KQT member 4 also known as voltage-gated potassium channel subunit Kv7.4 is a protein that in humans is encoded by the KCNQ4 gene.
Contents
Function
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 encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene.
Clinical significance
The current generated by this channel is inhibited by muscarinic acetylcholine receptor M1 and activated by retigabine, a novel anti-convulsant drug. 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.