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NeoBiotechnologies
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FIGURE: 1 / 2
The IDH1 gene, located on chromosome 2q34, encodes isocitrate dehydrogenase 1, an enzyme that plays a critical role in the citric acid cycle and cellular metabolism by catalyzing the oxidative decarboxylation of isocitrate to alpha-ketoglutarate. The R132G mutation in IDH1 involves the substitution of glycine for arginine at position 132, a hotspot for mutations in various cancers, most notably in gliomas and acute myeloid leukemia (AML). This mutation results in a neomorphic enzyme activity that reduces alpha-ketoglutarate to D-2-hydroxyglutarate, an oncometabolite that contributes to oncogenesis by altering cellular differentiation and epigenetic regulation through inhibition of alpha-ketoglutarate-dependent dioxygenases. The accumulation of D-2-hydroxyglutarate is a hallmark of IDH1-mutant cancers and serves as a diagnostic biomarker. Targeting mutant IDH1 with specific inhibitors has emerged as a therapeutic strategy, aiming to reverse the metabolic and epigenetic aberrations caused by this mutation and provide clinical benefit in cancers harboring this alteration.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cytosolic NADP-isocitrate dehydrogenase; epididymis luminal protein 216; epididymis secretory protein Li 26; IDH; IDH1 R132G; IDPc; Isocitrate Dehydrogenase 1 (mutant R132G); isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase 1 (NADP+), soluble; Isocitrate dehydrogenase [NADP] cytoplasmic; NADP(+)-specific ICDH; NADP-dependent isocitrate dehydrogenase, cytosolic; NADP-dependent isocitrate dehydrogenase, peroxisomal; Oxalosuccinate decarboxylase
Gene Aliases: HEL-216; HEL-S-26; IDCD; IDH; IDH1; IDP; IDPC; PICD
UniProt ID: (Human) O75874
Entrez Gene ID: (Human) 3417
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