Gene Symbol | CHRNE |
Entrez Gene ID | 1145 |
Full Name | cholinergic receptor nicotinic epsilon subunit |
Synonyms | ACHRE,CMS1D,CMS1E,CMS2A,CMS4A,CMS4B,CMS4C,FCCMS,SCCMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3); Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3); Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3) |