GABBR1

GABBR1 is a gene that encodes the GABA B receptor 1, a protein that is part of the GABA receptor family. This receptor is found in the central nervous system and plays a crucial role in neurotransmission.

Function

The GABBR1 gene is responsible for the production of the GABA B receptor 1. This receptor is a part of the G-protein coupled receptor family, which are proteins that span the cell membrane and play a role in signal transduction. The GABA B receptor 1 specifically binds to gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the mammalian central nervous system. This binding leads to the activation of an inwardly rectifying potassium channel and the inhibition of the adenylate cyclase. This ultimately results in a decrease in neuronal excitability.

Clinical significance

Mutations in the GABBR1 gene have been associated with various neurological and psychiatric disorders. For instance, alterations in this gene have been linked to schizophrenia, bipolar disorder, and epilepsy. Furthermore, the GABBR1 gene is a potential target for the treatment of these disorders.

See also

• GABA receptor
• G-protein coupled receptor
• Neurotransmission

References

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