GABRA3

Description

The GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3) is a protein-coding gene located on chromosome X.

Gamma-aminobutyric acid receptor subunit alpha-3 is a protein that in humans is encoded by the GABRA3 gene. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABAA receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABAA receptor. At least 16 distinct subunits of GABA-A receptors have been identified. GABA receptors are composed of 5 subunits with an extracellular ligand binding domains and ion channel domains that are integral to the membrane. Ligand binding to these receptors activates the channel. Recent research has produced several ligands that are selective for GABAA receptors containing the α3 subunit. Subtype-selective agonists for α3 produce anxiolytic effects without sedative, amnesia, or ataxia. selective a3 agonists also show lack of dependence, and could make them superior to currently marketed drugs. Adipiplon, PWZ-029 (partial agonist at α3, partial inverse agonist at α5), and TP003 (Selective full agonist at α3) are agonists. α3IA is an inverse agonist. The GABRA3 transcript undergoes pre-mRNA editing by the ADAR family of enzymes.

GABA, the primary inhibitory neurotransmitter in the vertebrate brain, facilitates neuronal inhibition by binding to the GABA/benzodiazepine receptor, which subsequently opens an integral chloride channel.

GABRA3 is also known as EPILX2.

Associated Diseases

• Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
• Thyrotoxic periodic paralysis