Gene Symbol | GLRA1 |
Entrez Gene ID | 2741 |
Full Name | glycine receptor alpha 1 |
Synonyms | HKPX1,STHE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3) |