disease:Defects in CHRNA2 are the cause of nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]. ENFL4 is an autosomal dominant epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.,function:After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors.,
Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.