CHRNA2
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.
Involvement in disease
Epilepsy, nocturnal frontal lobe, 4
ENFL4
An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
None
The disease is caused by variants affecting the gene represented in this entry.
Seizures, benign familial infantile, 6
BFIS6
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant.
None
The disease may be 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. Alpha-2/CHRNA2 sub-subfamily.
Cellular localization
- Postsynaptic cell membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
Alternative names
Neuronal acetylcholine receptor subunit alpha-2, CHRNA2