| 释义 |
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{{Infobox_gene}}Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.[1]For background information on the acetylcholine receptor (AChR), see CHRNA1 (MIM 100690). Two forms of AChR are found in mammalian skeletal muscle cells. The mature form is predominant in innervated adult muscle and the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentameric glycoprotein complex by its isoform, the epsilon subunit (MIM 100725), which is specific to the mature AChR subtype. This switch is mediated by ARIA (acetylcholine receptor-inducing activity; MIM 142445).[supplied by OMIM][1] References1. ^1 {{cite web | title = Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1146| accessdate = }}
External linksFurther 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 |display-authors=etal}}
- {{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 |display-authors=etal}}
- {{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}}
- {{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 |display-authors=etal}}
- {{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 }}
- {{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}}
- {{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}}{{membrane-protein-stub}} 2 : Ion channels|Nicotinic acetylcholine receptors |