| Regulating Pair |
| Introduced Variation |
Mutation (Ala254Asp) of SLC13A3 |
Protein Info
|
| Induced Change |
Succinic 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 succinic acid concentration after SLC13A3 mutation (Ala254Asp) through 3H- or 14C-labeled amino acids assay. |
| Disease Status |
Healthy individual |
| Subcellular Location |
Membrane (Cell 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 (Ala254Asp) of SLC13A3 leads to the decrease of succinic acid levels compared with control group in .. |
|
|
|
|
|
|
|
| References |
| 1 |
SLC13A3 variants cause acute reversible leukoencephalopathy and -ketoglutarate accumulation. Ann Neurol. 2019 Mar;85(3):385-395.
|
If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.
