// Workers AI · dad joke modeWhat did CHRNG say to its date? You ring a bell.

CHRNG
Identifiers
Aliases	CHRNG, ACHRG, cholinergic receptor nicotinic gamma subunit
External IDs	OMIM: 100730; MGI: 87895; GeneCards: CHRNG
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 232,539,692 bp End 232,548,115 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C5|1 44.07 cM Start 87,132,379 bp End 87,140,416 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh cerebellar vermis glutes synovial joint human penis periodontal fiber skeletal muscle tissue sural nerve seminal vesicula Top expressed in lens internal carotid artery mylohyoid muscle tongue muscle erector spinae muscles tongue Psoas zygote shoulder psoas major muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function channel activity acetylcholine binding acetylcholine receptor activity ion channel activity protein binding extracellular ligand-gated ion channel activity ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity Cellular component integral component of membrane acetylcholine-gated channel complex postsynaptic membrane membrane plasma membrane synapse integral component of plasma membrane cell junction neuron projection Biological process muscle contraction response to nicotine synaptic transmission, cholinergic ion transport cation transmembrane transport neuromuscular synaptic transmission signal transduction regulation of postsynaptic membrane potential excitatory postsynaptic potential ion transmembrane transport chemical synaptic transmission regulation of membrane potential nervous system process Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 1146 11449 Ensembl ENSG00000196811 ENSMUSG00000026253 UniProt P07510 P04760 RefSeq (mRNA) NM_005199 NM_009604 RefSeq (protein) NP_005190 n/a Location (UCSC) Chr 2: 232.54 – 232.55 Mb Chr 1: 87.13 – 87.14 Mb PubMed search
Wikidata
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Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.

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, is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.

This switch is mediated by Neuregulin 1 (acetylcholine receptor-inducing activity).

Clinical significance

Mutations in CHRNG are known to cause the following conditions:

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

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.