Cholinergic Receptor, Nicotinic, Gamma Polypeptide

Alternative Names

  • CHRNG
  • Acetylcholine Receptor, Muscle, Gamma Subunit
  • ACHRG
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OMIM Number

100730

NCBI Gene ID

1146

Uniprot ID

P07510

Length

8,424 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Acetylcholine Receptor Subunit Gamma

Molecular Mass

57883 Da

Amino Acid Count

517

Genomic Location

chr2:232,539,691-232,548,114

Gene Map Locus
2q33-q34

Description

The Nicotinic Acetylcholine Receptor (nAChR) is a membrane receptor protein found on skeletal muscles, which is responsible for signal transduction between nerves and muscles. The binding of the ligand acetylcholine to the nAChR molecule, leads to a conformation change resulting in the opening of an ion-conducting channel across the plasma membrane. The mature functional protein is composed of four subunits - alpha, beta, gamma/epsilon, and delta. The gamma polypeptide of this protein is coded for by the CHRNG gene. In fetal and denervated muscles, the nAChR protein contains the gamma polypeptide. This forms a low-conductance, long open-end channel, which is distributed throughout the fiber length. In adults, however, the CHRNG is expressed in only very small amounts, so that the channel contains the epsilon polypeptide, and is of high-conductance, brief open type.

Mutations in the CHRNG gene have been implicated in the development of the lethal type and Escobar variant forms of multiple pterygium syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005199.5:c.1249G>CLebanonchr2:232544580PathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.9889G>C; NM_005199.5:c.1249G>C; NP_005190.4:p.Glu417Gln
NM_005199.5:c.13C>TLebanon; Omanchr2:232539760PathogenicPathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.5069C>T; NM_005199.5:c.13C>T; NP_005190.4:p.Gln5Ter26760672518336
NM_005199.5:c.320T>GSaudi Arabiachr2:232540681PathogenicPathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.5990T>G; NM_005199.5:c.320T>G; NP_005190.4:p.Val107Gly26760672618340
NM_005199.5:c.351-9T>CUnited Arab EmiratesNC_000002.12:g.232541365T>CLikely PathogenicLikely PathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.6674T>C; NM_005199.5:c.351-9T>C; NP_005190.4:p.?7643825821326275
NM_005199.5:c.715C>TLebanon; Omanchr2:232542992PathogenicPathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.8301C>T; NM_005199.5:c.715C>T; NP_005190.4:p.Arg239Cys12191267018337
NM_005199.5:c.807dupLebanonchr2:232543276PathogenicMultiple Pterygium Syndrome, Escobar VariantNG_012954.2:g.8585dup; NM_005199.5:c.807dup; NP_005190.4:p.Gly270fs778176530
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