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Kcnq4

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Title: Kcnq4  
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Subject: Chromosome 1 (human), Nonsyndromic deafness, Voltage-gated potassium channel
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Kcnq4

Potassium voltage-gated channel, KQT-like subfamily, member 4
PDB rendering based on 2ovc.
Available structures
PDB Ortholog search: RCSB
Identifiers
KCNQ4 Gene
RNA expression pattern

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]

See also

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview
  • Medical Subject Headings (MeSH)
  • GeneReviews/NCBI/NIH/UW entry on DFNA2 Nonsyndromic Hearing Loss

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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