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CMS4C

Chr 17AR

cholinergic receptor nicotinic epsilon subunit

Also known as: ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C

NCBI Gene: 1145 OMIM: 608931

The epsilon subunit forms part of the pentameric acetylcholine receptor complex at neuromuscular junctions, replacing the gamma subunit shortly after birth in mature receptors. Mutations cause congenital myasthenic syndrome 4C with acetylcholine receptor deficiency, presenting from birth with muscle weakness and fatigability. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— CMS4C

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/CMS4C?content-type=application/json&expand=1

gnomad: Error: Gene not found