| Regulating Pair |
| Introduced Variation |
Mutation (patients: bi-allelic mutations) of HOGA1 |
Protein Info
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| Induced Change |
4-Hydroxy-L-glutamic acid 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 4-hydroxy-L-glutamic acid concentration after HOGA1 mutation (patients: bi-allelic mutations) through GCMS based metabolomics. |
| Disease Status |
Carbohydrate metabolism disorders |
ICD-11: 5C51 |
| Organ/Tissue/Cell Line |
N.A. |
Urine |
| 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 (patients with bi-allelic mutations) of HOGA1 leads to the increase of 4-hydroxy-L-glutamic acid levels compared with control group. |
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| References |
| 1 |
Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism. J Mol Med (Berl). 2012 Dec;90(12):1497-504.
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