The chrna2 gene encodes a nicotinic acetylcholine receptor subunit, which forms a ligand-gated ion channel. This protein functions as a membrane-bound receptor mediating synaptic transmission in the ne...[+]

The chrna2 gene encodes a nicotinic acetylcholine receptor subunit, which forms a ligand-gated ion channel. This protein functions as a membrane-bound receptor mediating synaptic transmission in the nervous system. It is involved in cholinergic signaling and is expressed in cranial ganglia, the spinal cord, retina, telencephalon, and optic tectum. [-]

             autosomal dominant nocturnal frontal lobe epilepsy 4
             obsolete benign familial infantile seizures 6

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD