Biology:KvLQT3
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Kv7.3 (KvLQT3) is a potassium channel protein coded for by the gene KCNQ3.[1]
It is associated with benign familial neonatal epilepsy[2] and autism.[3][4]
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2).[1]
Interactions
KvLQT3 has been shown to interact with KCNQ5.[5]
References
- ↑ 1.0 1.1 "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3786.
- ↑ "Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?". Epileptic Disorders 22 (6): 807–810. December 2020. doi:10.1684/epd.2020.1221. PMID 33337327.
- ↑ "Autism and developmental disability caused by KCNQ3 gain-of-function variants". Annals of Neurology 86 (2): 181–192. August 2019. doi:10.1002/ana.25522. PMID 31177578.
- ↑ "Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant". Journal of Child Neurology 37 (6): 517–523. May 2022. doi:10.1177/08830738221089741. PMID 35384780.
- ↑ "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation". Neuroscience 120 (2): 353–364. 2003. doi:10.1016/S0306-4522(03)00321-X. PMID 12890507.
Further reading
- "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews 57 (4): 473–508. December 2005. doi:10.1124/pr.57.4.10. PMID 16382104.
- "Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity". Annals of Neurology 29 (5): 469–473. May 1991. doi:10.1002/ana.410290504. PMID 1859177.
- "Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q". American Journal of Human Genetics 53 (3): 670–675. September 1993. PMID 8102508.
- "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family". Nature Genetics 18 (1): 53–55. January 1998. doi:10.1038/ng0198-53. PMID 9425900.
- "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy". The Journal of Biological Chemistry 273 (31): 19419–19423. July 1998. doi:10.1074/jbc.273.31.19419. PMID 9677360.
- "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel". Science 282 (5395): 1890–1893. December 1998. doi:10.1126/science.282.5395.1890. PMID 9836639. Bibcode: 1998Sci...282.1890W.
- "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy". Nature 396 (6712): 687–690. December 1998. doi:10.1038/25367. PMID 9872318. Bibcode: 1998Natur.396..687S.
- "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell 96 (3): 437–446. February 1999. doi:10.1016/S0092-8674(00)80556-5. PMID 10025409.
- "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell". The Journal of Neuroscience 19 (18): 7742–7756. September 1999. doi:10.1523/JNEUROSCI.19-18-07742.1999. PMID 10479678.
- "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current". The Journal of Neuroscience 20 (5): 1710–1721. March 2000. doi:10.1523/JNEUROSCI.20-05-01710.2000. PMID 10684873.
- "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits". Neuroscience Letters 282 (1–2): 73–76. March 2000. doi:10.1016/S0304-3940(00)00866-1. PMID 10713399.
- "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors". The Journal of Physiology 522 Pt 3 (Pt 3): 349–355. February 2000. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMID 10713961.
- "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy". Proceedings of the National Academy of Sciences of the United States of America 97 (9): 4914–4919. April 2000. doi:10.1073/pnas.090092797. PMID 10781098. Bibcode: 2000PNAS...97.4914C.
- "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy". The Journal of Biological Chemistry 275 (18): 13343–13348. May 2000. doi:10.1074/jbc.275.18.13343. PMID 10788442.
- "A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions". Annals of Neurology 47 (6): 822–826. June 2000. doi:10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.0.CO;2-X. PMID 10852552.
- "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine". Molecular Pharmacology 58 (2): 253–262. August 2000. doi:10.1124/mol.58.2.253. PMID 10908292.
- "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels". Molecular Pharmacology 58 (3): 591–600. September 2000. doi:10.1124/mol.58.3.591. PMID 10953053.
- "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit". FEBS Letters 480 (2–3): 137–141. September 2000. doi:10.1016/S0014-5793(00)01918-9. PMID 11034315. Bibcode: 2000FEBSL.480..137T.
- "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells". British Journal of Pharmacology 132 (2): 381–384. January 2001. doi:10.1038/sj.bjp.0703861. PMID 11159685.
- "The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels". The Journal of Biological Chemistry 277 (32): 28545–28553. August 2002. doi:10.1074/jbc.M204130200. PMID 12032157.
External links
- KCNQ3+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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