General Information of MET (ID: META01425)
Name LDL cholesterol
Structure Type Lipid-related molecules
Structure
2D MOL
Regulatory Network
Full List of Protein(s) Regulating This Metabolite
      Transferases (EC 2)
            Squalene synthase (FDFT1) Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Protein   Info click to show the details of this protein
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation of FDFT1
                      Induced Change LDL cholesterol concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the decrease of LDL cholesterol levels compared with control group.
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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