| Gene Symbol |
CHRND
|
| Gene Synonyms |
ACHRD CMS2A CMS3A CMS3B CMS3C FCCMS SCCMS |
| Gene Full Name |
cholinergic receptor nicotinic delta subunit |
| Gene 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] |
| Alternative Names |
acetylcholine receptor acetylcholine receptor nicotinic delta (muscle) cholinergic receptor cholinergic receptor nicotinic delta cholinergic receptor nicotinic delta (muscle) cholinergic receptor nicotinic delta polypeptide |
| Molecular Weight(MW) |
59kDa |
| Cellular Localization |
Cell junction, Cell membrane |