GABRB2

GABRB2 is a gene that encodes the beta 2 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 and is involved in inhibitory neurotransmission in the brain.

Structure

The GABRB2 gene is located on the short (p) arm of chromosome 5 at position 15. The exact location is 5p15.5, from base pair 15,507,652 to base pair 15,559,675. The gene spans about 52,023 base pairs. The GABRB2 gene produces a protein that is made up of 509 amino acids.

Function

The GABRB2 gene provides instructions for making a protein that forms part of the GABA A receptor. This receptor is located in the cell membrane of nerve cells in the brain, where it plays a crucial role in transmitting signals between these cells. The GABA A receptor is activated by the neurotransmitter GABA, the chief inhibitory compound in the mature vertebrate central nervous system.

Clinical significance

Mutations in the GABRB2 gene have been associated with various psychiatric disorders, including schizophrenia, bipolar disorder, and epilepsy. Research has shown that these mutations can alter the function of the GABA A receptor, disrupting the balance of excitatory and inhibitory signals in the brain and leading to the symptoms of these disorders.

See also

• GABA A receptor
• Gamma-aminobutyric acid
• Schizophrenia
• Bipolar disorder
• Epilepsy