GABRR2

GABRR2 is a gene that encodes the Gamma-aminobutyric acid (GABA) A receptor, rho 2, in humans. GABA is the chief inhibitory neurotransmitter in the mammalian central nervous system. It plays a role in regulating neuronal excitability throughout the nervous system. In humans, GABA is also directly responsible for the regulation of muscle tone.

Function

The protein encoded by the GABRR2 gene is a member of the rhodopsin family of G-protein-coupled receptors. These proteins function as ligand-gated ion channels, with GABA being the endogenous ligand. The encoded protein can form homomeric or heteromeric pentameric channels, each of which is an anion channel that allows the flow of chloride ions into the cell. This flow of chloride ions helps to mediate the inhibitory effects of GABA in the nervous system.

Clinical Significance

Mutations in the GABRR2 gene have been associated with various neurological disorders, including epilepsy, schizophrenia, and autism. Further research is needed to fully understand the role of this gene in these conditions.

See Also

• GABA receptor
• GABRR1
• GABRR3

References

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