GABRB3

GABRB3 is a gene that encodes the beta 3 subunit of the gamma-aminobutyric acid (GABA) A receptor in the human body. This receptor is a member of the ligand-gated ion channel family, which plays a crucial role in inhibitory neurotransmission.

Function

The GABRB3 gene is part of the GABA_A receptor, a pentameric structure composed of five subunits. The beta 3 subunit, encoded by GABRB3, is one of the possible subunits that can be incorporated into the receptor. The GABA_A receptor is the primary inhibitory neurotransmitter receptor in the brain. When activated by GABA, it allows the influx of chloride ions into the neuron, which leads to hyperpolarization of the cell and an overall decrease in neuronal excitability.

Clinical Significance

Mutations in the GABRB3 gene have been associated with several neurological and psychiatric disorders. These include childhood absence epilepsy, autism spectrum disorder, angelman syndrome, and prader-willi syndrome.

In the case of childhood absence epilepsy, mutations in GABRB3 can lead to a decrease in GABA_A receptor function, which results in increased neuronal excitability and the characteristic absence seizures.

In autism spectrum disorder, angelman syndrome, and prader-willi syndrome, the role of GABRB3 is less clear. However, it is thought that alterations in GABAergic neurotransmission, possibly due to changes in GABA_A receptor composition or function, may contribute to the cognitive and behavioral abnormalities seen in these disorders.

Research

Research into the GABRB3 gene and its associated disorders is ongoing. Current areas of focus include understanding the specific mechanisms by which mutations in GABRB3 lead to disease, as well as developing potential therapeutic strategies for these disorders.

File:GABRB3 gene location on human chromosome 15.png

Location of the GABRB3 gene on human chromosome 15.

See Also

• GABA_A receptor
• Gamma-aminobutyric acid
• Childhood absence epilepsy
• Autism spectrum disorder
• Angelman syndrome
• Prader-Willi syndrome