Disease-gene associations mined from literature

Literature associating CHRNA6 and early infantile epileptic encephalopathy 2

CHRNA6 [ENSP00000276410]

Cholinergic receptor, nicotinic, alpha 6 (neuronal); 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; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 6/CHRNA6 sub-subfamily.

Synonyms:  CHRNA6,  CHRNA6p,  hCHRNA6,  E9PP97,  Q15825 ...

Linkouts:  STRING  Pharos  UniProt  OMIM