Aliases for CHRND Gene
External Ids for CHRND Gene
Previous Symbols for CHRND Gene
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, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]
GeneCards Summary for CHRND Gene
CHRND (Cholinergic Receptor, Nicotinic, Delta (Muscle)) is a Protein Coding gene. Diseases associated with CHRND include multiple pterygium syndrome, lethal type and myasthenic syndrome, slow-channel congenital. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine binding. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRND Gene
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane