Literature associating CHRNB1 and congenital myasthenic syndrome 4C
Cholinergic receptor, nicotinic, beta 1 (muscle); 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; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily.
Synonyms: CHRNB1, CHRNB1p, hCHRNB1, B7Z2M6, B7Z5H1 ...