IDH1 2026-10-20
A cytosolic isocitrate-dehydrogenase isoform. Certain cancer-associated variants acquire an altered catalytic activity producing 2-hydroxyglutarate.[ref]
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate by Lenny Dang and others. Biochemical characterization of mutant enzyme
Neomorphic mutation 2026-10-20
A mutation giving a qualitatively altered activity, such as a new substrate reaction. Mutant IDH1 production of 2-hydroxyglutarate provides an example.