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Official Full Name
cholinergic receptor, nicotinic, gamma (muscle)
Background
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.
Synonyms
CHRNG; cholinergic receptor, nicotinic, gamma; ACHRG, cholinergic receptor, nicotinic, gamma polypeptide; acetylcholine receptor subunit gamma; Acetylcholine receptor muscle gamma subunit; Acetylcholine receptor protein gamma chain precursor; ACHG; Achr 3; Achr3; ACHRG; ACRG; Cholinergic receptor nicotinic gamma; Cholinergic receptor nicotinic gamma polypeptide; MGC133376; OTTHUMP00000203703; OTTHUMP00000203704; acetylcholine receptor, muscle, gamma subunit; cholinergic receptor, nicotinic, gamma polypeptide; cholinergic receptor, nicotinic, gamma (muscle); ACHRG, cholinergic receptor, nicotinic, gamma; acetylcholine receptor; nicotinic; gamma (muscle); acetylcholine receptor, nicotinic, gamma (muscle); chrngl; wu:fc54e06; AChr gamma; cholinergic receptor, nicotinic, gamma like; nicotinic acetylcholine receptor subunit gamma