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Open Access Articles- Top Results for KCNQ4

KCNQ4

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Identifiers
SymbolsKCNQ4 ; DFNA2; DFNA2A; KV7.4
External IDsOMIM603537 MGI1926803 HomoloGene78107 IUPHAR: 563 ChEMBL: 3576 GeneCards: KCNQ4 Gene
RNA expression pattern
File:PBB GE KCNQ4 221083 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez913260613
EnsemblENSG00000117013ENSMUSG00000028631
UniProtP56696Q9JK97
RefSeq (mRNA)NM_004700NM_001081142
RefSeq (protein)NP_004691NP_001074611
Location (UCSC)Chr 1:
41.25 – 41.31 Mb
Chr 4:
120.7 – 120.75 Mb
PubMed search[1][2]

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

  1. ^ Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (Mar 1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell 96 (3): 437–46. PMID 10025409. doi:10.1016/S0092-8674(00)80556-5. 
  2. ^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev 57 (4): 473–508. PMID 16382104. doi:10.1124/pr.57.4.10. 
  3. ^ a b c "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4". 
  4. ^ Yu H, Wu M, Townsend SD et al. (2011). "Discovery, Synthesis, and Structure Activity Relationship of a Series of N-Aryl- bicyclo[2.2.1]heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel Opener". ACS Chem Neurosci 2 (10): 572–577. PMC 3223964. PMID 22125664. doi:10.1021/cn200065b. 

Further reading

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  • Iannotti FA, Barrese V, Formisano L, Taglialatela M (Feb 2013). "Specification of skeletal muscle differentiation by repressor element-1 silencing transcription factor (REST)-regulated Kv7.4 potassium channels.". Mol Biol Cell. 24 (3): 274–84. PMID 23242999. doi:10.1091/mbc.E11-12-1044. 

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External links

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


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