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Antibody detects endogenous levels of total CHRNG.
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.
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Protein Aliases: acetylcholine receptor; Acetylcholine receptor subunit gamma; acetylcholine receptor, muscle, gamma subunit; acetylcholine receptor, nicotinic, gamma (muscle); AChR gamma subunit; cholinergic receptor; cholinergic receptor, nicotinic gamma; cholinergic receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic, gamma polypeptide; chrng variant N1; chrng variant N2; nicotinic acetylcholine receptor gamma subunit
Gene Aliases: Achr-3; ACHRG; Acrg; CHRNG
UniProt ID: (Human) P07510, (Rat) P18916
Entrez Gene ID: (Human) 1146, (Rat) 25753, (Mouse) 11449
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