Gene Symbol | CHRND |
Entrez Gene ID | 1144 |
Full Name | cholinergic receptor nicotinic delta subunit |
Synonyms | ACHRD,CMS2A,CMS3A,CMS3B,CMS3C,FCCMS,SCCMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3); Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3); ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3); Multiple pterygium syndrome, lethal type, 253290 (3) |