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, which 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. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and DAG and IP3 signaling. 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
Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels ot ethanol contribute to the sedative effects of ethanol (By similarity).
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.