| Regulating Pair |
| Introduced Variation |
Mutation (Nonsense mutations or missense mutations) of L2hgdh |
Protein Info
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| Induced Change |
Glycine 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 glycine 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
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| Details |
It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glycine levels compared with control group in SKMEL-24 cells and WM278 cells. |
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| 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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