Aliases for CHRNA1 Gene
External Ids for CHRNA1 Gene
Previous Symbols for CHRNA1 Gene
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
GeneCards Summary for CHRNA1 Gene
CHRNA1 (Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)) is a Protein Coding gene. Diseases associated with CHRNA1 include chrna1-related congenital myasthenic syndrome and chrna1-related multiple pterygium syndrome, lethal type. 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 receptor activity. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRNA1 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