GABRB3
GABRB3[edit | edit source]
GABRB3 is a gene that encodes the gamma-aminobutyric acid (GABA) A receptor, beta 3 subunit. This gene is part of a family of genes that provide instructions for making subunits of the GABA A receptor, which is a protein that responds to the neurotransmitter gamma-aminobutyric acid (GABA). GABA is the main inhibitory neurotransmitter in the central nervous system (CNS).
Function[edit | edit source]
The GABA A receptor is a ligand-gated ion channel that mediates the inhibitory effects of GABA. The receptor is composed of five subunits, and the beta 3 subunit encoded by GABRB3 is one of these subunits. The receptor's primary function is to regulate neuronal excitability by allowing chloride ions to enter the neuron, leading to hyperpolarization and decreased likelihood of an action potential.
Clinical Significance[edit | edit source]
Mutations in the GABRB3 gene have been associated with several neurological and developmental disorders. These include:
- Epilepsy: Variants in GABRB3 have been linked to different forms of epilepsy, including childhood absence epilepsy and Dravet syndrome.
- Autism spectrum disorder: Some studies suggest a potential association between GABRB3 and autism, although the exact relationship is not fully understood.
- Angelman syndrome: GABRB3 is located in a region of chromosome 15 that is often deleted in Angelman syndrome, contributing to the neurological symptoms of the disorder.
Expression[edit | edit source]
GABRB3 is expressed in various regions of the brain, including the cerebral cortex, hippocampus, and thalamus. Its expression is crucial for the proper functioning of GABAergic neurotransmission in these areas.
Interactions[edit | edit source]
The GABA A receptor, including the beta 3 subunit, interacts with various other proteins and molecules. These interactions are important for the receptor's function and regulation. For example, the receptor can be modulated by benzodiazepines, which enhance the effect of GABA and are used in the treatment of anxiety and epilepsy.
Research[edit | edit source]
Ongoing research is focused on understanding the precise role of GABRB3 in neurological disorders and exploring potential therapeutic targets. Animal models and genetic studies continue to provide insights into the gene's function and its impact on brain development and function.
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
