产品描述： background: 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 type1. Polymorphisms in this gene that provide protection against

nicotine addiction have been described.

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 permeable to sodium ions.

Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 subunit can be combined to beta-2 or

beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required

for proper folding and assembly.

Subcellular Location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Cell membrane; Lipid-anchor (By similarity).

DISEASE: Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]: An autosomal dominant focal epilepsy characterized by nocturnal seizures

with hyperkinetic automatisms and poorly organized stereotyped movements. Note=The disease is caused by mutations affecting the

gene represented in this entry.

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub-subfamily.