This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009],disease:Defects in GLRB are a cause of startle disease (STHE) [MIM:149400], also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. Inheritance can be autosomal dominant or recessive.,function:The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Pentamer composed of alpha and beta subunits. Interacts with GPHN.,
