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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.
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Protein Aliases: acetylcholine receptor; cholinergic receptor; cholinergic receptor, nicotinic alpha 4; cholinergic receptor, nicotinic, alpha 4 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 4; CHRNA 4; nAChR alpha 4; Neuronal acetylcholine receptor subunit alpha-4; neuronal nicotinic acetylcholine receptor alpha-4 subunit
Gene Aliases: BFNC; CHRNA4; EBN; EBN1; NACHR; NACHRA4; NACRA4
UniProt ID: (Human) Q4JGR7
Entrez Gene ID: (Human) 1137
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