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 cerebellar medulloblastoma. 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