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gene: KCNQ4

id9132
symbolKCNQ4
organismHomo sapiens
full namepotassium voltage-gated channel subfamily Q member 4
summaryThe 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]
variant-disease

NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) AND DFNA 2 Nonsyndromic Hearing Loss

NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) AND DFNA 2 Nonsyndromic Hearing Loss

NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) AND DFNA 2 Nonsyndromic Hearing Loss

NM_004700.4(KCNQ4):c.708+14G>C AND not specified

NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) AND not specified

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