Disease-gene associations mined from literature

Literature associating CHRNB1 and congenital myasthenic syndrome 4C

CHRNB1 [ENSP00000304290]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM