Biology:KCNQ4
From HandWiki
Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
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
- ↑ "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell 96 (3): 437–46. Mar 1999. doi:10.1016/S0092-8674(00)80556-5. PMID 10025409.
- ↑ "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev 57 (4): 473–508. Dec 2005. doi:10.1124/pr.57.4.10. PMID 16382104.
- ↑ 3.0 3.1 3.2 "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132.
- ↑ "Discovery, Synthesis, and Structure Activity Relationship of a Series of N-Aryl- bicyclo[2.2.1heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel Opener"]. ACS Chem Neurosci 2 (10): 572–577. 2011. doi:10.1021/cn200065b. PMID 22125664.
Further reading
- "Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families". Hum. Mol. Genet. 8 (7): 1321–8. 1999. doi:10.1093/hmg/8.7.1321. PMID 10369879.
- "Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss". Hum. Mutat. 14 (6): 493–501. 2000. doi:10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P. PMID 10571947.
- "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors". J. Physiol. 522 (3): 349–55. 2000. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMID 10713961.
- "Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region". Am. J. Med. Genet. 93 (3): 184–7. 2000. doi:10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5. PMID 10925378.
- "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. 2001. doi:10.1016/S0169-328X(00)00204-7. PMID 11042367.
- "KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology". Am. J. Physiol., Cell Physiol. 280 (4): C859–66. 2001. doi:10.1152/ajpcell.2001.280.4.C859. PMID 11245603.
- "A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment". Hum. Mutat. 20 (1): 15–9. 2002. doi:10.1002/humu.10096. PMID 12112653.
- "Audiologic evidence for further genetic heterogeneity at DFNA2". Acta Otolaryngol. 122 (7): 730–5. 2003. doi:10.1080/003655402/000028059. PMID 12484650.
- "A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly". EMBO Rep. 4 (1): 76–81. 2003. doi:10.1038/sj.embor.embor715. PMID 12524525.
- "Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase". J. Biol. Chem. 279 (44): 45399–407. 2004. doi:10.1074/jbc.M408410200. PMID 15304482.
- "Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway". Pflügers Arch. 450 (1): 34–44. 2005. doi:10.1007/s00424-004-1366-2. PMID 15660259.
- "The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss". Hum. Mutat. 27 (8): 786–95. 2006. doi:10.1002/humu.20360. PMID 16823764.
- "KCNQ4: a gene for age-related hearing impairment?". Hum. Mutat. 27 (10): 1007–16. 2006. doi:10.1002/humu.20375. PMID 16917933.
- "Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan". Audiol. Neurootol. 12 (1): 20–6. 2007. doi:10.1159/000096154. PMID 17033161.
- "Inactivation as a New Regulatory Mechanism for Neuronal Kv7 Channels". Biophys. J. 92 (8): 2747–56. 2007. doi:10.1529/biophysj.106.101287. PMID 17237198. Bibcode: 2007BpJ....92.2747J.
- "Structural Insight into KCNQ (Kv7) Channel Assembly and Channelopathy". Neuron 53 (5): 663–75. 2007. doi:10.1016/j.neuron.2007.02.010. PMID 17329207.
- "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. March 2010. doi:10.1124/jpet.109.162800. PMID 20040580.
- "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. Feb 2013. doi:10.1091/mbc.E11-12-1044. PMID 23242999.
External links
- GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview
- KCNQ4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on DFNA2 Nonsyndromic Hearing Loss
PDB gallery | |
|---|---|
|
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |  |
