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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.