Synonyms |
CHRFAM7A, ACHA7_HUMAN, cholinergic receptor, nicotinic, alpha 7, Neuronal acetylcholine receptor subunit alpha-7, ACHR ALPHA 7, AChR alpha 7 Receptor, Acra7, ALPHA-7NACHR, ALPHA7, ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR, Alpha7 nicr, BTX, CHRNA7, CHRNA7-2, NACHR alpha7, NACHRA7, NARAD, Alpha 7 neuronal nicotinic acetylcholine receptor FAM7A hybrid, CHRNA7 (cholinergic receptor nicotinic alpha 7 exons 5 10) and FAM7A (family with sequence similarity 7A exons A E) fusion, CHRNA7, CHRNA7 DR1, CHRNA7 FAM7A fusion, CHRNA7 FAM7A fusion protein, D 10, D10, MGC120482, MGC120483 |
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. |