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CHRNG cholinergic receptor nicotinic gamma subunit

Also known as: ACHRG

Summary

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Lethal multiple pterygium syndrome
MedGen: C1854678OMIM: 253290GeneReviews: Not available
See labs
Multiple pterygium syndrome Escobar type
MedGen: C0265261OMIM: 265000GeneReviews: Not available
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Genomic context

Location:
2q37.1
Sequence:
Chromosome: 2; NC_000002.12 (232539727..232546328)
Total number of exons:
12

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