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Literature summary extracted from

  • Djouadi, F.; Aubey, F.; Schlemmer, D.; Ruiter, J.P.N.; Wanders, R.J.A.; Strauss, A.W.; Bastin, J.
    Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders (2005), Hum. Mol. Genet., 14, 2695-2703.
    View publication on PubMed

Activating Compound

EC Number Activating Compound Comment Organism Structure
1.3.8.8 bezafibrate stimulates VLCAD gene expression to 44% in normal and to 150% in VLCAD-deficient fibroblasts, increases activity 2.2fold in normal fibroblasts, induces a dose-dependent increase in palmitate oxidation capacities in cells from patients with the myopathic form of VLCAD deficiency, complete normalization of cell fatty acid oxidation capacities after exposure to 500 mM for 48 h, but not in cells from severely affected patients Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.8 A364G patient died suddenly in infancy, severe VLCAD deficiency Homo sapiens
1.3.8.8 G520A patient symptomatic, with episodic rhabdomyolysis Homo sapiens
1.3.8.8 T848C patients asymptomatic on dietary management Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.8 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.8.8 fibroblast normal and VLCAD-deficient individuals Homo sapiens
-
1.3.8.8 skin
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.8.8 palmitoyl-CoA + electron-transfer flavoprotein
-
 Homo sapiens (2E)-2-hexadecenoyl-CoA + reduced electron-transfer flavoprotein
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.8.8 VLCAD
-
 Homo sapiens