# CHRNG > Mediated Wiki article. Canonical URL: https://mediated.wiki/source/CHRNG > Markdown URL: https://mediated.wiki/source/CHRNG.md > Source: https://en.wikipedia.org/wiki/CHRNG > Source revision: 1333849726 > License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/) {{Short description|Protein-coding gene in humans}} {{Infobox_gene}} '''Acetylcholine receptor subunit gamma''' is a [protein](/source/protein) that in humans is encoded by the '''CHRNG''' [gene](/source/gene).{{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 = }} It is one of the subunits that compose the [nicotinic acetylcholine receptor](/source/nicotinic_acetylcholine_receptor) (nAChR). It is a [pentameric](/source/Pentameric_protein) [ionotropic receptor](/source/Ligand-gated_ion_channel) 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](/source/mammalian) skeletal [muscle cells](/source/muscle_cells). The mature form, containing the epsilon subunit, which is specific to this mature AChR subtype{{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}}, is predominant in innervated adult [muscle](/source/muscle) and the embryonic form, containing gamma is present in fetal and denervated muscle.{{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}} This switch is mediated by [Neuregulin 1](/source/Acetylcholine_receptor_inducing_activity) (acetylcholine receptor-inducing activity). == Clinical significance == Mutations in CHRNG are known to cause the following conditions:{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/P07510/entry#disease_variants |access-date=2023-07-08 |website=www.uniprot.org}} * 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}} {{NLM content}} {{Ligand-gated ion channels}} {{Cholinergics}} Category:Ion channels Category:Nicotinic acetylcholine receptors {{membrane-protein-stub}} --- Adapted from the Wikipedia article [CHRNG](https://en.wikipedia.org/wiki/CHRNG) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/CHRNG?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.