Aliases for GLRB Gene
External Ids for GLRB Gene
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]
GeneCards Summary for GLRB Gene
GLRB (Glycine Receptor, Beta) is a Protein Coding gene. Diseases associated with GLRB include hyperekplexia 2, autosomal recessive and glrb-related hyperekplexia. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include glycine binding and extracellular-glycine-gated ion channel activity. An important paralog of this gene is GABRR1.
UniProtKB/Swiss-Prot for GLRB Gene
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)
Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem. Glycine receptors exist as pentameric proteins, homo-oligomers of the alpha isoforms (alpha1, alpha2, alpha3 or alpha4) or hetero-oligomers which also contain the beta-subtype variant (beta1) which is essential for targeting the receptor to the synapse. Glycine receptors contain an integral chloride channel, and have modulatory sites for anesthetics, neurosteroids, cannabinoids and ethanol. Disruption in glycine receptor expression or ion channel function can result in hyperekplexia, a rare neurological disorder.