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CHRNE

Official Full Name
cholinergic receptor nicotinic epsilon subunit
Organism
Homo sapiens
GeneID
1145
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. [provided by RefSeq, Sep 2009]
Synonyms
MGI; FIM1; FIMG; ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; FIMG1; SCCMS; CMS1A1;

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