| Name | GLRA1 |
|---|---|
| Synonyms | GLRA 1; GLRA1; Glycine receptor 48 kDa subunit; Glycine receptor strychnine binding subunit; Glycine receptor subunit alpha 1; Glycine receptor subunit alpha 1 precursor; STHE; Glycine receptor 48 kDa subunits… |
| Name | strychnine |
|---|---|
| CAS | strychnidin-10-one |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 7874121 | Buckwalter MS, Cook SA, Davisson MT, White WF, Camper SA: A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death. Hum Mol Genet. 1994 Nov;3(11):2025-30. Mutations which impair GLRA1 function in humans have been shown to cause dominant familial startle disease. This receptor is the major adult glycine receptor, and the site of action of the poison strychnine. |
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| 11395484 | Breitinger HG, Villmann C, Becker K, Becker CM: Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1 (P250) govern glycine receptor activation and desensitization. J Biol Chem. 2001 Aug 10;276(32):29657-63. Epub 2001 Jun 6. Allelic variants of the glycine receptor alpha1 subunit gene GLRA1 underlie the human neurological disorder hyperekplexia. |
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| 9145798 | Kling C, Koch M, Saul B, Becker CM: The frameshift mutation oscillator (Glra1 (spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system. Neuroscience. 1997 May;78(2):411-7. Lethality of the murine null allele Glra1 (spd-ot) contrasts with the situation in the human, where homozygosity for a GLRA1 null allele produces the phenotype of the non-lethal disorder hyperekplexia (startle disease; stiff baby syndrome). Symptoms of this disorder mimic poisoning by strychnine, the antagonist of the inhibitory glycine receptor. |
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