Official Full Name
glycine receptor, alpha 1
The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates;postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE),;also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different;isoforms have been found for this gene.
GLRA1; glycine receptor, alpha 1; glycine receptor, alpha 1 (startle disease/hyperekplexia) , STHE; glycine receptor subunit alpha-1; startle disease/hyperekplexia; stiff person syndrome; glycine receptor 48 kDa subunit; glycine receptor strychnine-bindin; [a]Z1; glycine receptor subunit alphaZ1; GlyR [a]Z1; glycine receptor, alphaZ1 subunit