D-α-Hydroxyglutaric Acid (Synonyms: D-2-HG, D-2-Hydroxyglutaric Acid) |
| カタログ番号GC18583 |
人間の神経代謝疾患D-2-HGAで過剰生産される
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Cas No.: 13095-47-1
Sample solution is provided at 25 µL, 10mM.
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D-α-Hydroxyglutaric acid (D-2-HG) is an α-hydroxy acid that is over-produced in the human neurometabolic disease D-2-hydroxyglutaric aciduria (D-2-HGA). It is normally synthesized from 2-ketoglutarate (2-KG) by hydroxyacid-oxoacid transhydrogenase (HOT), although defects in HOT are not known to be associated with D-2-HGA. Instead, type I D-2-HGA involves mutations in D-2-hydroxyglutarate dehydrogenase, which converts D-2-HG back to 2-KG. Type II D-2-HGA results from gain-of-function mutations in isocitrate dehydrogenase 2 (IDH2), causing it to supplement HOT in converting 2-KG to D-2-HG. In bacteria, this α-hydroxy acid may be synthesized from oxalate and propionyl-coenzyme A by an α-hydroxyglutaric acid synthetase.
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Average Rating: 5 (Based on Reviews and 21 reference(s) in Google Scholar.)
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