CHRNG

From Wikipedia, the free encyclopedia

Cholinergic receptor, nicotinic, gamma

Identifiers

CHRNG; ACHRG; MGC133376

External IDs

OMIM: 100730 MGI: 87895 HomoloGene: 3810

Gene ontology
Molecular Function:	• nicotinic acetylcholine-activated cation-selective channel activity • muscarinic acetylcholine receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • channel activity • neurotransmitter receptor activity
Cellular Component:	• integral to plasma membrane • integral to membrane • postsynaptic membrane
Biological Process:	• ion transport • muscle contraction • signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005199 (mRNA)
NP_005190 (protein)

XM_978270 (mRNA)
XP_983364 (protein)

Location

Chr 2: 233.11 - 233.12 Mb

Chr 1: 89.04 - 89.04 Mb

Pubmed search

[1]

[2]

Cholinergic receptor, nicotinic, gamma, also known as CHRNG, is a human 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]

[edit] References

^ ^a ^b Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma.

[edit] Further reading

Morgan NV, Brueton LA, Cox P, et al. (2006). "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. doi:10.1086/506256. PMID 16826531.
Hoffmann K, Muller JS, Stricker S, et al. (2006). "Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.". Am. J. Hum. Genet. 79 (2): 303–12. doi:10.1086/506257. PMID 16826520.
Gallego S, Llort A, Roma J, et al. (2007). "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. doi:10.1007/s00432-006-0083-y. PMID 16435141.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Vernet-der Garabedian B, Lacokova M, Eymard B, et al. (1994). "Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.". J. Clin. Invest. 94 (2): 555–9. PMID 8040310.
Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.". Neuron 14 (3): 635–44. PMID 7695910.
Beeson D, Brydson M, Betty M, et al. (1993). "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.". Eur. J. Biochem. 215 (2): 229–38. PMID 7688301.
Shibahara S, Kubo T, Perski HJ, et al. (1985). "Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor.". Eur. J. Biochem. 146 (1): 15–22. PMID 3967651.
Cohen-Haguenauer O, Barton PJ, Buonanno A, et al. (1990). "Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter.". Cytogenet. Cell Genet. 52 (3-4): 124–7. PMID 2630182.
Schurr E, Skamene E, Morgan K, et al. (1991). "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. PMID 1981051.