| Regulating Pair |
| Introduced Variation |
Mutation (R249H) of LIAS |
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 LIAS mutation (R249H) through LC-MS based metabolomics. |
| Disease Status |
Cervical Cancer |
ICD-11: 2C77 |
| Organ/Tissue/Cell Line |
Human skin fibroblasts |
Skin |
| Subcellular Location |
Mitochondrion |
| 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 (R249H) of LIAS leads to the increase of 2-hydroxyglutarate levels compared with control group in human skin fibroblasts. |
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| References |
| 1 |
Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1 Stability in Aerobic Conditions. Cell Metab. 2016 Nov 8;24(5):740-752.
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