Potassium voltage-gated channel subfamily KQT member 4, also known asvoltage-gated potassium channel subunit Kv7.4, is aprotein that in humans is encoded by theKCNQ4gene.[5][6][7]
The protein encoded by this gene forms apotassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of thecochlea. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by theKCNQ3 gene.[7]
The current generated by this channel is inhibited bymuscarinic acetylcholine receptor M1 and activated byretigabine, a novel anti-convulsant drug. Defects in this gene are a cause ofnonsyndromic 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.[7]
Beisel KW, Nelson NC, Delimont DC, Fritzsch B (2001). "Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2".Brain Res. Mol. Brain Res.82 (1–2):137–49.doi:10.1016/S0169-328X(00)00204-7.PMID11042367.
Søgaard R, Ljungstrøm T, Pedersen KA, et al. (2001). "KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology".Am. J. Physiol., Cell Physiol.280 (4): C859–66.doi:10.1152/ajpcell.2001.280.4.C859.PMID11245603.S2CID7891527.
Stern RE, Lalwani AK (2003). "Audiologic evidence for further genetic heterogeneity at DFNA2".Acta Otolaryngol.122 (7):730–5.doi:10.1080/003655402/000028059.PMID12484650.
Van Laer L, Carlsson PI, Ottschytsch N, et al. (2006). "The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss".Hum. Mutat.27 (8):786–95.doi:10.1002/humu.20360.PMID16823764.S2CID25357017.
Su CC, Yang JJ, Shieh JC, et al. (2007). "Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan".Audiol. Neurootol.12 (1):20–6.doi:10.1159/000096154.PMID17033161.S2CID25256223.
Iannotti FA, Panza E, Barrese V, Viggiano D, Soldovieri MV, Taglialatela M (March 2010). "Expression, localization, and pharmacological role of Kv7 potassium channels in skeletal muscle proliferation, differentiation, and survival after myotoxic insults".J. Pharmacol. Exp. Ther.332 (3):811–20.doi:10.1124/jpet.109.162800.PMID20040580.S2CID17248733.
