CHRND, Official Symbol CHRNDprovided by HGNC Official Full Name cholinergic receptor nicotinic delta subunitprovided by HGNC Primary source HGNC:HGNC:1965 See related Ensembl:ENSG00000135902 MIM:100720; AllianceGenome:HGNC:1965 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all