Disease-gene associations mined from literature

Literature associating GABRB3 and Dravet syndrome

GABRB3 [ENSP00000308725]

Gamma-aminobutyric acid (GABA) A receptor, beta 3; 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. GABRB3 sub-subfamily.

Synonyms:  GABRB3,  GABRB3p,  hGABRB3,  F5H7N0,  G3V373 ...

Linkouts:  STRING  Pharos  UniProt