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The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene.
Gene Name: | cholinergic receptor, nicotinic, delta (muscle) |
Family/Subfamily: | Ion Channel , Nicotinic acetylcholine receptor |
Synonyms: | CHRND, AChR-delta, ACHRD, FCCMS, SCCMS, CMS2A, NAChR delta |
Target Sequences: | NM_000751 NP_000742.1 Q07001 |
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