KCNQ4
Template:Short description Template:Infobox gene 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.[1][2][3]
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.[3]
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.[3]
Ligands
- ML213: KCNQ2/Q4 channel opener.[4]
See also
References
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Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview
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- GeneReviews/NCBI/NIH/UW entry on DFNA2 Nonsyndromic Hearing Loss
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.