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. |