Entrez gene ID | | 1137 |
Official gene symbol | | CHRNA4 |
Full name | | cholinergic receptor, nicotinic, alpha 4 |
Aliases | | ,BFNC,EBN,EBN1,FLJ95812,NACHR,NACHRA4,NACRA4, |
Gene summary | | This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20q13.2-q13.3 |
Gene position | | 61992695 - 61974665 Map Viewer |
Gene orientation | | minus |
Gene size | | 18031 bp |
Gene sequence |
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OMIM ID | | 118504 |
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