Activating Compound | Comment | Organism | Structure |
---|---|---|---|
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 | Comment | Organism |
---|---|---|
A364G | patient died suddenly in infancy, severe VLCAD deficiency | Homo sapiens |
G520A | patient symptomatic, with episodic rhabdomyolysis | Homo sapiens |
T848C | patients asymptomatic on dietary management | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | normal and VLCAD-deficient individuals | Homo sapiens | - |
skin | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
palmitoyl-CoA + electron-transfer flavoprotein | - |
Homo sapiens | (2E)-2-hexadecenoyl-CoA + reduced electron-transfer flavoprotein | - |
? |
Synonyms | Comment | Organism |
---|---|---|
VLCAD | - |
Homo sapiens |