GLRA1, Official Symbol GLRA1provided by HGNC Official Full Name glycine receptor alpha 1provided by HGNC Primary source HGNC:HGNC:4326 See related Ensembl:ENSG00000145888 MIM:138491; AllianceGenome:HGNC:4326 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STHE; HKPX1 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all