GLRA2

GLRA2 is a gene that encodes the alpha-2 subunit of the glycine receptor, a pentameric transmembrane receptor that mediates inhibitory neurotransmission in the central nervous system. This gene is located on the X chromosome and is associated with a range of neurological disorders.

Structure

The GLRA2 gene is located on the X chromosome (Xp22.2) and spans approximately 9 kilobases. The gene consists of nine exons and encodes a protein of 527 amino acids. The alpha-2 subunit of the glycine receptor encoded by this gene is a member of the ligand-gated ion channel family. The protein has four transmembrane domains and a large extracellular N-terminal domain where the ligand-binding site is located.

Function

The glycine receptor is a chloride channel that is activated by the neurotransmitter glycine. It is involved in the inhibitory neurotransmission in the spinal cord and brainstem. The alpha-2 subunit encoded by the GLRA2 gene contributes to the formation of the glycine receptor, but its exact role is not fully understood. It is thought to play a role in the development and function of the nervous system.

Clinical significance

Mutations in the GLRA2 gene have been associated with a range of neurological disorders. These include hyperekplexia, a condition characterized by an exaggerated startle response, and certain forms of epilepsy. However, the exact mechanisms by which mutations in this gene cause these disorders are not fully understood.

See also

• Glycine receptor
• Neurotransmission
• Hyperekplexia
• Epilepsy

References

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