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NeoBiotechnologies
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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: HEL-216; HEL-S-26; IDCD; IDH; IDH1; IDP; IDPC; PICD
UniProt ID: (Human) O75874
Entrez Gene ID: (Human) 3417