CHRNB2
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 sodiun ions.
Involvement in disease
Epilepsy, nocturnal frontal lobe, 3
ENFL3
An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-2/CHRNB2 sub-subfamily.
Cellular localization
- Postsynaptic cell membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
Alternative names
Neuronal acetylcholine receptor subunit beta-2, CHRNB2