Disease-gene associations mined from literature

Literature associating GABRB2 and early myoclonic encephalopathy

GABRB2 [ENSP00000274547]

Gamma-aminobutyric acid (GABA) A receptor, beta 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; Gamma-aminobutyric acid type A receptor subunits

Synonyms:  GABRB2,  GABRB2p,  hGABRB2,  B7Z279,  D1M715 ...

Linkouts:  STRING  Pharos  UniProt  OMIM