| Regulating Pair |
| Introduced Variation |
Mutation (AAAins435/R58X; P131R/exon 2 splice variant; R190H/R190H; K187R/K187R) of FH |
Protein Info
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| Induced Change |
Succinic 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 succinic acid concentration after FH mutation (AAAins435/R58X; P131R/exon 2 splice variant; R190H/R190H; K187R/K187R) through MRS analysis based metabolomics. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
Fibroblasts |
Skin |
| Subcellular Location |
Mitochondrion; Cytoplasm (Cytosol); Nucleus (Chromosome) |
| 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 (AAAins435/R58X; P131R/exon 2 splice variant; R190H/R190H; K187R/K187R) of FH leads to the increase of succinic acid levels compared with control group in fibroblasts. |
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| References |
| 1 |
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet. 2005 Aug 1;14(15):2231-9.
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