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Official Full Name
cholinergic receptor, nicotinic, epsilon (muscle)
Background
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome.
Synonyms
CHRNE; cholinergic receptor, nicotinic, epsilon; cholinergic receptor, nicotinic, epsilon polypeptide; acetylcholine receptor subunit epsilon; ACHRE; ACHE_HUMAN; AchR epsilon subunit; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS; im:7154697; zgc:101010; acetylcholine receptor subunit gamma; AChR epsilon; nicotinic acetylcholine receptor subunit epsilon