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 glra1-related hyperekplexia and hyperekplexia, hereditary 1, autosomal dominant or recessive. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include extracellular ligand-gated ion channel activity and extracellular-glycine-gated chloride 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.