Description
Product Characteristics: The glycine receptor is a neurotransmitter-gated ion channel. Glycine is an important inhibitory transmitter in the brainstem and spinal cord. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization. The alpha-1 subunit of the glycine receptor is a ligand-gated chloride channel. This inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha and beta subunits. Defects in alpha 1 Glycine Receptor are implicated in the pathophysiology of startle disease (STHE).
Target Information: 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.[provided by RefSeq, Mar 2009]