Gene Symbol | CHRNB1 |
Entrez Gene ID | 1140 |
Full Name | cholinergic receptor nicotinic beta 1 subunit |
Synonyms | ACHRB,CHRNB,CMS1D,CMS2A,CMS2C,SCCMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3); ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3) |