KCNQ4

Potassium voltage-gated channel, KQT-like subfamily, member 4, also known as KCNQ4 or K_v7.4, is a human gene.cite web | title = Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132| accessdate = ]

PBB_Summary
section_title =
summary_text = 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 current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. 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.cite web | title = Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132| accessdate = ]

ee also

* Voltage-gated potassium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gutman GA, Chandy KG, Grissmer S, "et al." |title=International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 473–508 |year= 2006 |pmid= 16382104 |doi= 10.1124/pr.57.4.10
*cite journal | author=Kubisch C, Schroeder BC, Friedrich T, "et al." |title=KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. |journal=Cell |volume=96 |issue= 3 |pages= 437–46 |year= 1999 |pmid= 10025409 |doi=
*cite journal | author=Coucke PJ, Van Hauwe P, Kelley PM, "et al." |title=Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. |journal=Hum. Mol. Genet. |volume=8 |issue= 7 |pages= 1321–8 |year= 1999 |pmid= 10369879 |doi=
*cite journal | author=Talebizadeh Z, Kelley PM, Askew JW, "et al." |title=Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. |journal=Hum. Mutat. |volume=14 |issue= 6 |pages= 493–501 |year= 2000 |pmid= 10571947 |doi= 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P |doilabel=10.1002/(SICI)1098-1004(199912)14:6493::AID-HUMU83.0.CO;2-P
*cite journal | author=Selyanko AA, Hadley JK, Wood IC, "et al." |title=Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. |journal=J. Physiol. (Lond.) |volume=522 Pt 3 |issue= |pages= 349–55 |year= 2000 |pmid= 10713961 |doi=
*cite journal | author=Van Hauwe P, Coucke PJ, Ensink RJ, "et al." |title=Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. |journal=Am. J. Med. Genet. |volume=93 |issue= 3 |pages= 184–7 |year= 2000 |pmid= 10925378 |doi=
*cite journal | author=Beisel KW, Nelson NC, Delimont DC, Fritzsch B |title=Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. |journal=Brain Res. Mol. Brain Res. |volume=82 |issue= 1-2 |pages= 137–49 |year= 2001 |pmid= 11042367 |doi=
*cite journal | author=Søgaard R, Ljungstrøm T, Pedersen KA, "et al." |title=KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology. |journal=Am. J. Physiol., Cell Physiol. |volume=280 |issue= 4 |pages= C859–66 |year= 2001 |pmid= 11245603 |doi=
*cite journal | author=Van Camp G, Coucke PJ, Akita J, "et al." |title=A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. |journal=Hum. Mutat. |volume=20 |issue= 1 |pages= 15–9 |year= 2002 |pmid= 12112653 |doi= 10.1002/humu.10096
*cite journal | author=Stern RE, Lalwani AK |title=Audiologic evidence for further genetic heterogeneity at DFNA2. |journal=Acta Otolaryngol. |volume=122 |issue= 7 |pages= 730–5 |year= 2003 |pmid= 12484650 |doi=
*cite journal | author=Schwake M, Jentsch TJ, Friedrich T |title=A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly. |journal=EMBO Rep. |volume=4 |issue= 1 |pages= 76–81 |year= 2003 |pmid= 12524525 |doi= 10.1038/sj.embor.embor715
*cite journal | author=Li Y, Langlais P, Gamper N, "et al." |title=Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase. |journal=J. Biol. Chem. |volume=279 |issue= 44 |pages= 45399–407 |year= 2004 |pmid= 15304482 |doi= 10.1074/jbc.M408410200
*cite journal | author=Chambard JM, Ashmore JF |title=Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway. |journal=Pflugers Arch. |volume=450 |issue= 1 |pages= 34–44 |year= 2005 |pmid= 15660259 |doi= 10.1007/s00424-004-1366-2
*cite journal | author=Van Laer L, Carlsson PI, Ottschytsch N, "et al." |title=The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. |journal=Hum. Mutat. |volume=27 |issue= 8 |pages= 786–95 |year= 2006 |pmid= 16823764 |doi= 10.1002/humu.20360
*cite journal | author=Van Eyken E, Van Laer L, Fransen E, "et al." |title=KCNQ4: a gene for age-related hearing impairment? |journal=Hum. Mutat. |volume=27 |issue= 10 |pages= 1007–16 |year= 2006 |pmid= 16917933 |doi= 10.1002/humu.20375
*cite journal | author=Su CC, Yang JJ, Shieh JC, "et al." |title=Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. |journal=Audiol. Neurootol. |volume=12 |issue= 1 |pages= 20–6 |year= 2007 |pmid= 17033161 |doi= 10.1159/000096154
*cite journal | author=Jensen HS, Grunnet M, Olesen SP |title=Inactivation as a new regulatory mechanism for neuronal Kv7 channels. |journal=Biophys. J. |volume=92 |issue= 8 |pages= 2747–56 |year= 2007 |pmid= 17237198 |doi= 10.1529/biophysj.106.101287
*cite journal | author=Howard RJ, Clark KA, Holton JM, Minor DL |title=Structural insight into KCNQ (Kv7) channel assembly and channelopathy. |journal=Neuron |volume=53 |issue= 5 |pages= 663–75 |year= 2007 |pmid= 17329207 |doi= 10.1016/j.neuron.2007.02.010

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes