| Regulating Pair |
| Introduced Variation |
Mutation (protein: R132-R132H) of IDH1 |
Protein Info
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| Induced Change |
2-Hydroxyglutarate concentration: increase |
Metabo Info
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| Summary |
Introduced Variation
Induced Change
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| Full List of Experiment(s) Validating This Regulating Pair |
| Details of Experiment for Validating This Pair |
[1] |
| Method |
Quantifying the change of 2-hydroxyglutarate concentration after IDH1 mutation (protein: R132-R132H) through LC-MS based metabolomics. |
| Disease Status |
Acute myeloid leukaemia |
ICD-11: 2A60 |
| Organ/Tissue/Cell Line |
SF188 cells (Human Glioblastoma cells) |
Brain |
| Subcellular Location |
Cytoplasm (Cytosol); Peroxisome |
| Tested Species |
Species: Homo sapiens (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
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| Details |
It is reported that mutation (protein with R132-R132H) of IDH1 leads to the increase of 2-hydroxyglutarate levels compared with control group in SF188 cells. |
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| References |
| 1 |
The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell. 2010 Mar 16;17(3):225-34.
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