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Beschreibung

Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to produce alpha-ketoglutarate and carbon dioxide. There exist three forms of IDHs in human (IDH1-3), with IDH3 utilizing NAD+ as a cofactor and functioning within the citric acid cycle, while IDH1 (EC 1.1.1.42, UniProt P48735) and IDH2 (EC 1.1.1.42, UniProt P48735) utilizing NADP+ as a cofactor and functioning outside the context of the citric acid cycle. Mutated IDH1 and IDH2 convert alpha-ketoglutarate to oncometabolite R(-)-2-hydroxyglutarate (2-HG) in cytosol and mitochondria, respectively. Isocitrate dehydrogenase 1 ⁄, 2 mutations have been reported in gliomas, acute myeloid leukemias (AMLs), cartilaginous tumors, osteosarcoma, Giant cell tumors of bone (GCTB), Ollier disease, and Maffucci syndrome.