Gene Symbol | CHRNA1 |
Entrez Gene ID | 1134 |
Full Name | cholinergic receptor nicotinic alpha 1 subunit |
Synonyms | ACHRA,ACHRD,CHRNA,CMS1A,CMS1B,CMS2A,FCCMS,SCCMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3); Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3); Multiple pterygium syndrome, lethal type, 253290 (3) |