Details of Experiment

Regulating Pair
       Introduced Variation Mutation (Lys232Arg) of SLC25A21 Protein Info
       Induced Change Oxoglutaric acid concentration: decrease 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 oxoglutaric acid concentration after SLC25A21 mutation (Lys232Arg) through UPLC-MS/MS based metabolomics.
       Disease Status Muscular atrophy ICD-11: 8B61
       Organ/Tissue/Cell Line SH-SY5Y cells (Human neuroblastoma cells) Brain neuroblastoma
metastatic site of bone marrow
       Subcellular Location Mitochondrion (Mitochondrion inner membrane)
       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
       Details It is reported that mutation (Lys232Arg) of SLC25A21 leads to the decrease of oxoglutaric acid levels compared with control group in SH-SY5Y cells.
References
1 Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet Med. 2018 Oct;20(10):1224-1235.

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