DISEASES

Disease-gene associations mined from literature

Literature associating GLRA1 and Stiff-Person syndrome

GLRA1 [ENSP00000411593]

Glycine receptor subunit alpha-1; Glycine receptors are ligand-gated chloride channels . 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 . Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization . Plays an important role in the down-regulation of neuronal excitability . Contributes to the generation of inhibitory postsynaptic currents . Channel activity is potentiated by ethanol . Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity). ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:22715885, ECO:0000269|PubMed:22973015, ECO:0000269|PubMed:23994010, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:25730860, ECO:0000269|PubMed:25973519, ECO:0000269|PubMed:7920629, ECO:0000269|PubMed:7925268,

Synonyms:  GLRA1,  GLRA1p,  hGLRA1,  E5RJ70,  P23415 ...

Linkouts:  STRING  Pharos  UniProt  OMIM