Chrnb1 - cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)

Enables acetylcholine binding activity and acetylcholine-gated cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in plasma membrane. Is integral component of postsynaptic specialization membrane. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction. Is expressed in several structures, including forelimb bud; limb segment; lung; paraxial mesenchyme; and skeletal musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). [provided by Alliance of Genome Resources, Apr 2022]