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CHRNG

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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
View/Edit HumanView/Edit Mouse

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

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][5]

Clinical significance

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Mutations in CHRNG are known to cause the following conditions:[6]

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196811Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026253Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: CHRNG cholinergic receptor, nicotinic, gamma".
  6. ^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.
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Further reading

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