Biology:CHRNG
From HandWiki
Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.[1]
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[2], is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.[3]
This switch is mediated by Neuregulin 1 (acetylcholine receptor-inducing activity).[1]
Clinical significance
Mutations in CHRNG are known to cause the following conditions:[2][4]
- Multiple pterygium syndrome, lethal type (LMPS);
- Multiple pterygium syndrome, Escobar variant (EVMPS).
References
- ↑ 1.0 1.1 "Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1146.
- ↑ 2.0 2.1 Morgan, Neil V.; Brueton, Louise A.; Cox, Phillip; Greally, Marie T.; Tolmie, John; Pasha, Shanaz; Aligianis, Irene A.; van Bokhoven, Hans et al. (2006-08-01). "Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome". The American Journal of Human Genetics 79 (2): 390–395. doi:10.1086/506256. ISSN 0002-9297. https://www.sciencedirect.com/science/article/pii/S0002929707631486.
- ↑ Morgan, Neil V.; Brueton, Louise A.; Cox, Phillip; Greally, Marie T.; Tolmie, John; Pasha, Shanaz; Aligianis, Irene A.; van Bokhoven, Hans et al. (2006-08-01). "Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome". The American Journal of Human Genetics 79 (2): 390–395. doi:10.1086/506256. ISSN 0002-9297. https://www.sciencedirect.com/science/article/pii/S0002929707631486.
- ↑ "UniProt". https://www.uniprot.org/uniprotkb/P07510/entry#disease_variants.
External links
- Human CHRNG genome location and CHRNG gene details page in the UCSC Genome Browser.
Further reading
- "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.". Am. J. Hum. Genet. 79 (2): 390–5. 2006. doi:10.1086/506256. PMID 16826531.
- "Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.". Am. J. Hum. Genet. 79 (2): 303–12. 2006. doi:10.1086/506257. PMID 16826520.
- "Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay.". J. Cancer Res. Clin. Oncol. 132 (6): 356–62. 2007. doi:10.1007/s00432-006-0083-y. PMID 16435141.
- "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature 434 (7034): 724–31. 2005. doi:10.1038/nature03466. PMID 15815621. Bibcode: 2005Natur.434..724H.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.". J. Clin. Invest. 94 (2): 555–9. 1994. doi:10.1172/JCI117369. PMID 8040310.
- "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.". Neuron 14 (3): 635–44. 1995. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.". Eur. J. Biochem. 215 (2): 229–38. 1993. doi:10.1111/j.1432-1033.1993.tb18027.x. PMID 7688301.
- "Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor.". Eur. J. Biochem. 146 (1): 15–22. 1985. doi:10.1111/j.1432-1033.1985.tb08614.x. PMID 3967651.
- "Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter.". Cytogenet. Cell Genet. 52 (3–4): 124–7. 1990. doi:10.1159/000132860. PMID 2630182.
- "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.". Genomics 8 (3): 477–86. 1991. doi:10.1016/0888-7543(90)90034-R. PMID 1981051.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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