Gene Symbol | CHRNB2 |
Entrez Gene ID | 1141 |
Full Name | cholinergic receptor nicotinic beta 2 subunit |
Synonyms | EFNL3,nAChRB2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, nocturnal frontal lobe, 3, 605375 (3) |