Details of Experiment

Regulating Pair
       Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh Protein Info
       Induced Change Glyceric acid 1,3-biphosphate concentration: increase Metabo Info
       Summary Introduced Variation         Induced Change 
Full List of Experiment(s) Validating This Regulating Pair
Details of Experiment for Validating This Pair [1]
       Method Quantifying the change of glyceric acid 1,3-biphosphate concentration after L2hgdh mutation (Nonsense mutations or missense mutations; KMT2D loss) through mass spectrometry based metabolomics.
       Disease Status Melanoma ICD-11: 2C30
       Organ/Tissue/Cell Line SKMEL-24 cells (Human melanoma cells) Skin
WM278 cells (Human melanoma cells) Skin
       Subcellular Location Mitochondrion
       Tested Species   Species: Mus musculus  (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Rodentia
Family: Muridae
Genus: Mus
Species: Mus musculus
       Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glyceric acid 1,3-biphosphate levels compared with control group in SKMEL-24 cells and WM278 cells.
References
1 Enhancer Reprogramming Confers Dependence on Glycolysis and IGF Signaling in KMT2D Mutant Melanoma. Cell Rep. 2020 Oct 20;33(3):108293.

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