GABRA2

Description

The GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2) is a protein-coding gene located on chromosome 4.

GABRA2 is a protein in humans encoded by the GABRA2 gene. It's an alpha subunit of GABA-A receptors, which are ligand-gated chloride channels activated by GABA, the main inhibitory neurotransmitter in the brain. These channels are modulated by agents like benzodiazepines. GABA-A receptors consist of two alpha, two beta, and one gamma subunits, with at least 16 distinct subunits identified, including GABRA2. Found mainly in the hippocampus, these receptors play a key role in emotional and behavioral control, with GABRA2 specifically mediating anxiolytic activity. Variations in GABRA2 have been linked to alcoholism and adolescent behavior.

GABRA2 is a ligand-gated chloride channel that forms part of the GABA receptor complex, the major inhibitory neurotransmitter in the brain. It plays a crucial role in the formation of functional GABAergic synapses, mediating synaptic inhibition. The presence of the gamma2 subunit is essential for the rapid formation of active synaptic contacts, although it is not sufficient on its own. The synaptogenic effect of the gamma2 subunit is influenced by the specific combination of alpha and beta subunits within the receptor pentamer. For instance, the alpha2/beta2/gamma2 receptor exhibits synaptogenic activity, whereas the alpha2/beta3/gamma2 receptor shows significantly reduced or no synaptogenic activity.

GABRA2 is also known as DEE78, EIEE78.

Associated Diseases

• Epileptic encephalopathy, early infantile, 78
• Alcohol dependence
• Non-specific early-onset epileptic encephalopathy