Your search for "chrnd" returned 7,860 TaqMan® SNP Genotyping Assays
cholinergic receptor nicotinic delta subunit
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
ACHR-4, ACHRD, ACRD, CHRND, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, L10076, SCCMS
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