| Regulating Pair |
| Introduced Variation |
Mutation of FDFT1 |
Protein Info
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| Induced Change |
Cholesterol concentration: decrease |
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 cholesterol concentration after FDFT1 mutation (patients); variants in FDFT1 through GC-MS based metabolomics. |
| Disease Status |
Lipid metabolism disorders |
ICD-11: 5C52 |
| Organ/Tissue/Cell Line |
N.A. |
Plasma |
| Subcellular Location |
Endoplasmic reticulum (Endoplasmic reticulum 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
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| Details |
It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the decrease of cholesterol levels compared with control group. |
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| References |
| 1 |
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. Am J Hum Genet. 2018 Jul 5;103(1):125-130.
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