DISEASES

Disease-gene associations mined from literature

Literature associating GABRG2 and juvenile myoclonic epilepsy

GABRG2 [ENSP00000410732]

Gamma-aminobutyric acid (GABA) A receptor, gamma 2; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily.

Synonyms:  GABRG2,  GABRG2p,  hGABRG2,  A8MWU7,  E5RGG2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM