CHRNG

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.[5]

AliasesCHRNG, ACHRG, cholinergic receptor nicotinic gamma subunit
End232,548,115 bp[1]
Quick facts Identifiers, Aliases ...
CHRNG
Identifiers
AliasesCHRNG, ACHRG, cholinergic receptor nicotinic gamma subunit
External IDsOMIM: 100730; MGI: 87895; HomoloGene: 3810; GeneCards: CHRNG; OMA:CHRNG - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005199

NM_009604

RefSeq (protein)

NP_005190

n/a

Location (UCSC)Chr 2: 232.54 – 232.55 MbChr 1: 87.13 – 87.14 Mb
PubMed search[3][4]
Wikidata
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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[6], is predominant in innervated adult muscle and the embryonic form, containing gamma is present in fetal and denervated muscle.[7]

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][8]

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

References

Further reading

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