{"symbol":"CHRND","synonyms":["CMS3A","CMS3C","CMS3B"],"name":"cholinergic receptor, nicotinic, delta (muscle)","description":"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]","ncbiEntrezGeneId":1144,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1144","proteins":[{"symbol":"ACHD_HUMAN","href":"/api/1.0/protein/ACHD_HUMAN"}],"hgncRootFamilies":[{"name":"Cholinergic receptors","href":"/api/1.0/gene_family/Cholinergic+receptors"},{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}