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CHRNE cholinergic receptor nicotinic epsilon subunit

Also known as: ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; SCCMS

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]

Genomic context

Location:
17p13.2
Sequence:
Chromosome: 17; NC_000017.11 (4897769..4905019, complement)
Total number of exons:
13

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