General Information of MET (ID: META01381)
Name Margaroylcarnitine
Structure Type Lipid-related molecules
Structure
2D MOL
Regulatory Network
Full List of Protein(s) Regulating This Metabolite
      Oxidoreductases (EC 1)
            Formyltetrahydrofolate dehydrogenase (ALDH1L2) 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 ALDH1L2
                      Induced Change Margaroylcarnitine concentration: increase (FC = 0.72)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Genetic disorders of keratinisation [ICD-11: EC20]
                      Details It is reported that mutation (patients) of ALDH1L2 leads to the increase of margaroylcarnitine levels compared with control group.
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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