| Regulating Pair |
| Introduced Variation |
Mutation of ALDH1L2 |
Protein Info
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| Induced Change |
Propionylcarnitine concentration: increase (FC = 4) |
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 propionylcarnitine concentration after ALDH1L2 mutation (patients) through UHPLC/MS based metabolomics. |
| Disease Status |
Genetic disorders of keratinisation |
ICD-11: EC20 |
| Organ/Tissue/Cell Line |
Fibroblasts |
Skin |
| 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) of ALDH1L2 leads to the increase of propionylcarnitine levels compared with control group in fibroblasts. |
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| References |
| 1 |
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome. NPJ Genom Med. 2019 Jul 23;4:17.
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