Entrez gene ID | | 9132 |
Official gene symbol | | KCNQ4 |
Full name | | potassium voltage-gated channel, KQT-like subfamily, member 4 |
Aliases | | ,DFNA2,DFNA2A,KV7.4, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1p34 |
Gene position | | 41249684 - 41306124 Map Viewer |
Gene orientation | | plus |
Gene size | | 56441 bp |
Gene sequence |
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OMIM ID | | 603537 |
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