GABRG3

GABRG3 is a gene that encodes a subunit of the gamma-aminobutyric acid (GABA) A receptor in humans. The GABA A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene is located on the short arm of chromosome 15.

Function

The GABRG3 gene is part of the GABA receptor family. GABA is the primary inhibitory neurotransmitter in the central nervous system, and it works by reducing the activity of neurons to which it binds. The GABRG3 gene encodes the gamma 3 subunit of the GABA A receptor. This receptor is a pentameric protein, meaning it is composed of five subunits, and it functions as a ligand-gated ion channel. When GABA binds to the receptor, the channel opens to allow chloride ions to flow into the neuron, which inhibits the neuron's activity.

Clinical significance

Mutations in the GABRG3 gene have been associated with several neurological and psychiatric conditions, including epilepsy, autism, and schizophrenia. In particular, a significant association has been found between GABRG3 and childhood absence epilepsy.

Research

Research into the GABRG3 gene and its associated proteins is ongoing. Understanding the role of this gene in the function of the GABA A receptor and in various disease states may lead to the development of new therapeutic strategies for neurological and psychiatric disorders.

See also

• GABA receptor
• Gamma-aminobutyric acid
• Epilepsy
• Autism
• Schizophrenia