The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediatefast 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 conservedtransmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminalextracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeabilityto 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 thataffects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene islocated in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomallocation involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event inthis region results in a hybrid containing sequence from this gene and a novel FAM7A gene. (provided by RefSeq)
