GABRG3 Gene - GABA-A Receptor Gamma3 Subunit | Function & Disease

GABRG3 (gamma-aminobutyric acid type A receptor subunit gamma3) is a protein-coding gene located on chromosome 15q12. It encodes the gamma3 subunit of the GABA-A receptor, a pentameric ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The gamma3 subunit is essential for receptor assembly, benzodiazepine sensitivity, and synaptic localization. Variants in GABRG3 have been associated with neurodevelopmental disorders including autism spectrum disorder, epilepsy, and intellectual disability.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• GABAergic synapse (KEGG: hsa04727)

• Neuroactive ligand-receptor interaction (KEGG: hsa04080)

• Nicotine addiction (KEGG: hsa05033)

The GABRG3 protein (UniProt Q99928) is a 467-amino acid subunit of the GABA-A receptor. It contains an extracellular N-terminal domain, four transmembrane domains (M1-M4), and a large intracellular loop between M3 and M4. The gamma3 subunit confers benzodiazepine sensitivity when co-assembled with alpha and beta subunits. It is predominantly expressed in the brain, especially in hippocampus and cerebral cortex. Post-translational modifications include glycosylation and phosphorylation, which modulate receptor trafficking and function.