Synonyms: 7nAChR,a7 nicotinic acetylcholine receptor,acetylcholine receptor,neuronal nicotinic,alpha-7 subunit,ACHA7,AChR,Acra7,alpha 7 neuronal nicotinic acetylcholine receptor,alpha-7 nicotinic cholinergic receptor subunit,alpha7,cholinergic receptor,neuronal nicotinic,alpha polypeptide 7,cholinergic receptor,nicotinic,alpha 7 (neuronal),cholinergic receptor,nicotinic,alpha 7,cholinergic receptor,nicotinic,alpha polypeptide 7,CHRNA7,CHRNA7-2,NACHRA7,neuronal acetylcholine receptor protein,alpha-7 chain,Neuronal acetylcholine receptor subunit alpha-7
Background: The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants.