CHRNA4

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. [provided by RefSeq]

cholinergic receptor, nicotinic, alpha 4

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 permeable to sodium ions.

Action potential Source: UniProtKB
B cell activation Source: UniProtKB
Behavioral response to nicotine Source: UniProtKB
Calcium ion transport Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Cognition Source: UniProtKB
DNA repair Source: UniProtKB
Inhibitory postsynaptic potential Source: UniProtKB
Ion transmembrane transport Source: GO_Central
Ion transport Source: UniProtKB
Membrane depolarization Source: UniProtKB
Nervous system process Source: UniProtKB
Regulation of dopamine secretion Source: UniProtKB
Regulation of membrane potential Source: UniProtKB
Response to hypoxia Source: UniProtKB
Response to nicotine Source: UniProtKB
Response to oxidative stress Source: UniProtKB
Sensory perception of pain Source: UniProtKB
Signal transduction Source: UniProtKB
Synaptic transmission, cholinergic Source: UniProtKB

Postsynaptic cell membrane; Cell membrane

Epilepsy, nocturnal frontal lobe, 1 (ENFL1): An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

Extracellular: 29-242
Helical: 243-267
Helical: 275-293
Helical: 309-330
Cytoplasmic: 331-600
Helical: 601-619