Aliases for CHRNB1 Gene
External Ids for CHRNB1 Gene
Previous HGNC Symbols for CHRNB1 Gene
Previous GeneCards Identifiers for CHRNB1 Gene
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for CHRNB1 Gene
CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit) is a Protein Coding gene. Diseases associated with CHRNB1 include Myasthenic Syndrome, Congenital, 2A, Slow-Channel and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Peptide ligand-binding receptors and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNG.
UniProtKB/Swiss-Prot for CHRNB1 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.