CHRNG

{{Infobox_gene}} '''Acetylcholine receptor subunit gamma''' is a protein that in humans is encoded by the '''CHRNG''' gene.<ref name="entrez">{{cite web | title = Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1146| access-date = }}</ref>

It is one of the subunits that compose the nicotinic acetylcholine receptor (nAChR). It is a pentameric ionotropic receptor composed of five of four different subunits : two alpha (α), one beta (β), one delta (δ) and either one gamma (γ) or one epsilon (ε).

Two forms of AChR are found in mammalian skeletal muscle cells. The mature form, containing the epsilon subunit, which is specific to this mature AChR subtype<ref name=":0">{{Cite journal |last=Morgan |first=Neil V. |last2=Brueton |first2=Louise A. |last3=Cox |first3=Phillip |last4=Greally |first4=Marie T. |last5=Tolmie |first5=John |last6=Pasha |first6=Shanaz |last7=Aligianis |first7=Irene A. |last8=van Bokhoven |first8=Hans |last9=Marton |first9=Tamas |last10=Al-Gazali |first10=Lihadh |last11=Morton |first11=Jenny E. V. |last12=Oley |first12=Christine |last13=Johnson |first13=Colin A. |last14=Trembath |first14=Richard C. |last15=Brunner |first15=Han G. |date=2006-08-01 |title=Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome |url=https://www.sciencedirect.com/science/article/pii/S0002929707631486 |journal=The American Journal of Human Genetics |volume=79 |issue=2 |pages=390–395 |doi=10.1086/506256 |issn=0002-9297}}</ref>, is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.<ref>{{Cite journal |last=Morgan |first=Neil V. |last2=Brueton |first2=Louise A. |last3=Cox |first3=Phillip |last4=Greally |first4=Marie T. |last5=Tolmie |first5=John |last6=Pasha |first6=Shanaz |last7=Aligianis |first7=Irene A. |last8=van Bokhoven |first8=Hans |last9=Marton |first9=Tamas |last10=Al-Gazali |first10=Lihadh |last11=Morton |first11=Jenny E. V. |last12=Oley |first12=Christine |last13=Johnson |first13=Colin A. |last14=Trembath |first14=Richard C. |last15=Brunner |first15=Han G. |date=2006-08-01 |title=Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome |url=https://www.sciencedirect.com/science/article/pii/S0002929707631486 |journal=The American Journal of Human Genetics |volume=79 |issue=2 |pages=390–395 |doi=10.1086/506256 |issn=0002-9297}}</ref>

This switch is mediated by Neuregulin 1 (acetylcholine receptor-inducing activity).<ref name="entrez" />

== Clinical significance == Mutations in CHRNG are known to cause the following conditions:<ref name=":0" /><ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/P07510/entry#disease_variants |access-date=2023-07-08 |website=www.uniprot.org}}</ref>

* Multiple pterygium syndrome, lethal type (LMPS); * Multiple pterygium syndrome, Escobar variant (EVMPS).

==References== {{reflist}}

==External links== * {{UCSC gene info|CHRNG}}

==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=Morgan NV, Brueton LA, Cox P |title=Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. |journal=Am. J. Hum. Genet. |volume=79 |issue= 2 |pages= 390–5 |year= 2006 |pmid= 16826531 |doi= 10.1086/506256 | pmc=1559492 |display-authors=etal}} *{{cite journal | vauthors=Hoffmann K, Muller JS, Stricker S |title=Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. |journal=Am. J. Hum. Genet. |volume=79 |issue= 2 |pages= 303–12 |year= 2006 |pmid= 16826520 |doi= 10.1086/506257 | pmc=1559482 |display-authors=etal}} *{{cite journal | vauthors=Gallego S, Llort A, Roma J |title=Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay. |journal=J. Cancer Res. Clin. Oncol. |volume=132 |issue= 6 |pages= 356–62 |year= 2007 |pmid= 16435141 |doi= 10.1007/s00432-006-0083-y |s2cid=21561563 |display-authors=etal|pmc=12161079 }} *{{cite journal | vauthors=Hillier LW, Graves TA, Fulton RS |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |bibcode=2005Natur.434..724H |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Vernet-der Garabedian B, Lacokova M, Eymard B |title=Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor. |journal=J. Clin. Invest. |volume=94 |issue= 2 |pages= 555–9 |year= 1994 |pmid= 8040310 |doi=10.1172/JCI117369 | pmc=296130 |display-authors=etal}} *{{cite journal | vauthors=Kreienkamp HJ, Maeda RK, Sine SM, Taylor P |title=Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor. |journal=Neuron |volume=14 |issue= 3 |pages= 635–44 |year= 1995 |pmid= 7695910 |doi=10.1016/0896-6273(95)90320-8 |doi-access=free }} *{{cite journal | vauthors=Beeson D, Brydson M, Betty M |title=Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. |journal=Eur. J. Biochem. |volume=215 |issue= 2 |pages= 229–38 |year= 1993 |pmid= 7688301 |doi=10.1111/j.1432-1033.1993.tb18027.x |display-authors=etal}} *{{cite journal | vauthors=Shibahara S, Kubo T, Perski HJ |title=Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. |journal=Eur. J. Biochem. |volume=146 |issue= 1 |pages= 15–22 |year= 1985 |pmid= 3967651 |doi=10.1111/j.1432-1033.1985.tb08614.x |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Cohen-Haguenauer O, Barton PJ, Buonanno A |title=Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter. |journal=Cytogenet. Cell Genet. |volume=52 |issue= 3–4 |pages= 124–7 |year= 1990 |pmid= 2630182 |doi=10.1159/000132860 |display-authors=etal}} *{{cite journal | vauthors=Schurr E, Skamene E, Morgan K |title=Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. |journal=Genomics |volume=8 |issue= 3 |pages= 477–86 |year= 1991 |pmid= 1981051 |doi=10.1016/0888-7543(90)90034-R |display-authors=etal}} {{refend}}

Category:Ion channels Category:Nicotinic acetylcholine receptors