CHRNG
Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.[5]
It is one of the subunits that compose the nicotinic acetylcholine receptor (nAChR). The nAChR 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,[6] is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.[6]
This switch is mediated by Neuregulin 1 (acetylcholine receptor-inducing activity).[5]
Clinical significance
Mutations in CHRNG are known to cause the following conditions:[6][7]
- Multiple pterygium syndrome, lethal type (LMPS);
- Multiple pterygium syndrome, Escobar variant (EVMPS).
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196811 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026253 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma".
- ^ a b c Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. (August 2006). "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome". American Journal of Human Genetics. 79 (2): 390–395. doi:10.1086/506256. PMC 1559492. PMID 16826531.
- ^ "UniProt". UniProt. Retrieved 2023-07-08.
External links
- Human CHRNG genome location and CHRNG gene details page in the UCSC Genome Browser.
Further reading
- Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, et al. (August 2006). "Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit". American Journal of Human Genetics. 79 (2): 303–312. doi:10.1086/506257. PMC 1559482. PMID 16826520.
- Gallego S, Llort A, Roma J, Sabado C, Gros L, de Toledo JS (June 2006). "Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay". Journal of Cancer Research and Clinical Oncology. 132 (6): 356–362. doi:10.1007/s00432-006-0083-y. PMC 12161079. PMID 16435141. S2CID 21561563.
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, et al. (April 2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–731. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
- Vernet-der Garabedian B, Lacokova M, Eymard B, Morel E, Faltin M, Zajac J, et al. (August 1994). "Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor". The Journal of Clinical Investigation. 94 (2): 555–559. doi:10.1172/JCI117369. PMC 296130. PMID 8040310.
- Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, et al. (July 1993). "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits". European Journal of Biochemistry. 215 (2): 229–238. doi:10.1111/j.1432-1033.1993.tb18027.x. PMID 7688301.
- Shibahara S, Kubo T, Perski HJ, Takahashi H, Noda M, Numa S (January 1985). "Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor". European Journal of Biochemistry. 146 (1): 15–22. doi:10.1111/j.1432-1033.1985.tb08614.x. PMID 3967651.
- Cohen-Haguenauer O, Barton PJ, Buonanno A, Cong NV, Masset M, de Tand MF, et al. (1989). "Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter". Cytogenetics and Cell Genetics. 52 (3–4): 124–127. doi:10.1159/000132860. PMID 2630182.
- Schurr E, Skamene E, Morgan K, Chu ML, Gros P (November 1990). "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): 477–486. doi:10.1016/0888-7543(90)90034-R. PMID 1981051.
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