Aliases for GLRA1 Gene
External Ids for GLRA1 Gene
Previous HGNC Symbols for GLRA1 Gene
Previous GeneCards Identifiers for GLRA1 Gene
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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
GeneCards Summary for GLRA1 Gene
GLRA1 (Glycine Receptor, Alpha 1) is a Protein Coding gene. Diseases associated with GLRA1 include hyperekplexia, hereditary 1, autosomal dominant or recessive and 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 transmitter-gated ion channel activity. An important paralog of this gene is GABRR1.
UniProtKB/Swiss-Prot for GLRA1 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.