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CHRNA4

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{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

Neuronal acetylcholine receptor subunit alpha-4, also known as nAChRα4, is a protein that in humans is encoded by the CHRNA4 gene.{{cite journal | vauthors = Anand R, Lindstrom J | title = Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans | journal = Genomics | volume = 13 | issue = 4 | pages = 962–7 |date=Sep 1992 | pmid = 1505988 | doi =10.1016/0888-7543(92)90008-G }}{{cite web | title = Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137}} The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAChR). Alpha4-containing nAChRs (specifically the alpha4beta2 subtype) appear to play a crucial role in the addictive response to nicotine.

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, these pentameric receptors respond by undergoing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The protein encoded by this gene is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor.

Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy.{{cite web | title = Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137}} It has also been associated with a rare form of movement disorder characterised by dyskinesia during periods of exercise or activity called paroxysmal kinesogenic dyskinesia.{{cite journal | vauthors = Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA | title = The expanding spectrum of movement disorders in genetic epilepsies | journal = Developmental Medicine and Child Neurology | volume = 62 | issue = 2 | pages = 178–191 | date = February 2020 | pmid = 31784983 | doi = 10.1111/dmcn.14407 | s2cid = 208498567 | url = https://discovery.ucl.ac.uk/id/eprint/10088482/ }}

Interactive pathway map

{{NicotineDopaminergicActivity_WP1602|highlight=CHRNA4}}

See also

References

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Further reading

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  • {{cite journal | vauthors=Skorupska E, Rózycka A, Trzeciak WH |title=[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy] |journal=Neurol. Neurochir. Pol. |volume=36 |issue= 3 |pages= 513–25 |year= 2002 |pmid= 12185808 }}
  • {{cite journal | vauthors=Pilz AJ, Willer E, Povey S, Abbott CM |title=The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. |journal=Ann. Hum. Genet. |volume=56 |issue= Pt 4 |pages= 289–93 |year= 1993 |pmid= 1492743 |doi=10.1111/j.1469-1809.1992.tb01155.x |s2cid=23586336 }}
  • {{cite journal | vauthors=McLane KE, Wu XD, Conti-Tronconi BM |title=Identification of a brain acetylcholine receptor alpha subunit able to bind alpha-bungarotoxin. |journal=J. Biol. Chem. |volume=265 |issue= 17 |pages= 9816–24 |year= 1990 |doi=10.1016/S0021-9258(19)38744-7 |pmid= 2351675 |doi-access=free }}
  • {{cite journal | vauthors=Steinlein OK, Mulley JC, Propping P | author3-link=Peter Propping |title=A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. |journal=Nat. Genet. |volume=11 |issue= 2 |pages= 201–3 |year= 1995 |pmid= 7550350 |doi= 10.1038/ng1095-201 | s2cid=210163 |display-authors=etal}}
  • {{cite journal | vauthors=Phillips HA, Scheffer IE, Berkovic SF |title=Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. |journal=Nat. Genet. |volume=10 |issue= 1 |pages= 117–8 |year= 1995 |pmid= 7647781 |doi= 10.1038/ng0595-117 |s2cid=12912669 |display-authors=etal}}
  • {{cite journal | vauthors=Monteggia LM, Gopalakrishnan M, Touma E |title=Cloning and transient expression of genes encoding the human alpha 4 and beta 2 neuronal nicotinic acetylcholine receptor (nAChR) subunits. |journal=Gene |volume=155 |issue= 2 |pages= 189–93 |year= 1995 |pmid= 7721089 |doi=10.1016/0378-1119(94)00914-E |display-authors=etal}}
  • {{cite journal | vauthors=Steinlein O, Smigrodzki R, Lindstrom J |title=Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. |journal=Genomics |volume=22 |issue= 2 |pages= 493–5 |year= 1995 |pmid= 7806245 |doi= 10.1006/geno.1994.1420 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Steinlein O, Weiland S, Stoodt J, Propping P |title=Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). |journal=Genomics |volume=32 |issue= 2 |pages= 289–94 |year= 1997 |pmid= 8833159 |doi= 10.1006/geno.1996.0119 }}
  • {{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 |doi-access=free }}
  • {{cite journal | vauthors=Elliott KJ, Ellis SB, Berckhan KJ |title=Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits. |journal=J. Mol. Neurosci. |volume=7 |issue= 3 |pages= 217–28 |year= 1997 |pmid= 8906617 |doi=10.1007/BF02736842 |s2cid=45737923 |display-authors=etal}}
  • {{cite journal | vauthors=Groot Kormelink PJ, Luyten WH |title=Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32. |journal=FEBS Lett. |volume=400 |issue= 3 |pages= 309–14 |year= 1997 |pmid= 9009220 |doi=10.1016/S0014-5793(96)01383-X |s2cid=82364119 |doi-access= }}
  • {{cite journal | vauthors=Hirose S, Iwata H, Akiyoshi H |title=A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. |journal=Neurology |volume=53 |issue= 8 |pages= 1749–53 |year= 1999 |pmid= 10563623 |doi= 10.1212/wnl.53.8.1749|s2cid=27745257 |display-authors=etal}}
  • {{cite journal | vauthors=Samochocki M, Zerlin M, Jostock R |title=Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR. |journal=Acta Neurol. Scand. Suppl. |volume=176 |pages= 68–73 |year= 2001 |pmid= 11261808 |doi= 10.1034/j.1600-0404.2000.00310.x|s2cid=39916984 |display-authors=etal}}
  • {{cite journal | vauthors=Jeanclos EM, Lin L, Treuil MW |title=The chaperone protein 14-3-3eta interacts with the nicotinic acetylcholine receptor alpha 4 subunit. Evidence for a dynamic role in subunit stabilization. |journal=J. Biol. Chem. |volume=276 |issue= 30 |pages= 28281–90 |year= 2001 |pmid= 11352901 |doi= 10.1074/jbc.M011549200 |display-authors=etal|doi-access=free }}
  • {{cite conference | vauthors=Engidawork E, Gulesserian T, Balic N |chapter=Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease |title=Protein Expression in Down Syndrome Brain |journal=Journal of Neural Transmission. Supplementum |issue= 61 |pages= 211–22 |year= 2002 |pmid= 11771745 |doi= 10.1007/978-3-7091-6262-0_17|isbn=978-3-211-83704-7 |display-authors=etal |veditors= Lubec G}}
  • {{cite journal | vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |bibcode=2001Natur.414..865D |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Bertrand D, Picard F, Le Hellard S |title=How mutations in the nAChRs can cause ADNFLE epilepsy. |journal=Epilepsia |volume=43 |pages= 112–22 |year= 2002 |issue=Suppl 5 |pmid= 12121305 |doi=10.1046/j.1528-1157.43.s.5.16.x |s2cid=32858402 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Heeschen C, Weis M, Aicher A |title=A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors. |journal=J. Clin. Invest. |volume=110 |issue= 4 |pages= 527–36 |year= 2002 |pmid= 12189247 |doi=10.1172/JCI14676 | pmc=150415 |display-authors=etal}}

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External links

  • {{MeshName|CHRNA4+protein,+human}}
  • {{UCSC gene info|CHRNA4}}

{{NLM content}}

{{Ligand-gated ion channels}}

Category:Nicotinic acetylcholine receptors

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