Full name: cholinergic receptor nicotinic delta subunit

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS

Summary: 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]

Expression: Low expression observed in reference dataset

Gene size: 10505bp

Exon count: 12