EC Number   |
General Information |
Reference |
|---|
    2.5.1.39 | malfunction |
cell viability in skin fibroblasts with CoQ10 deficiency due to different molecular defects including mutations in COQ2. Treatment of multiple cell lines with increasing dosages of 4-nitrobenzoate, which inhibits 4-hydroxybenzoate:polyprenyltransferase, leads to dose-dependent decreases of CoQ in mammalian cells without directly inducing oxidative stress or mitochondrial respiration impairment. Fibroblasts from a patient with a homozygous COQ2 mutation require uridine to maintain cell growth and proposed that deficiency of CoQ10 impaired pyrimidine biosynthesis due to dependence of dihydro-orotate dehydrogenase on ubiquinol. Oxidative stress plays an important role in the demise of COQ2 mutant fibroblasts by activating cell-death related pathways, which are averted by antioxidant supplementation |
723550 |
| 2.5.1.39 | malfunction |
CoQ10 deficiency caused by mutation S109N in para-hydroxybenzoate-polyprenyl transferase, COQ2, leads to early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome, phenotype and clinical features, detailed overview |
738168 |
| 2.5.1.39 | malfunction |
enzyme mutations cause reduced CoQ10 levels, renal dysfunction associated with mitochondriopathies, and/or an epileptic phenotype, overview. The prevalence of renal symptoms in COQ2 defects may be related to differential expression of proteins involved in ubiquinone metabolism |
738464 |
| 2.5.1.39 | malfunction |
the consequence of severe CoQ10 deficiency on bioenergetics, oxidative stress, and antioxidant defenses in cultured skin fibroblasts harboring COQ2 mutations is examined. COQ2 mutant fibroblasts have 30% CoQ10 with partial defect in ATP synthesis, as well as significantly increased reactive oxygen species production and oxidation of lipids and proteins |
703609 |
| 2.5.1.39 | malfunction |
ubiA knockout mutants are deficient in 4-hydroxybenzoate octaprenyltransferase activity |
704240 |
| 2.5.1.39 | malfunction |
ubiA mutant shows a respiration-defective phenotype which is complemented by expression of yeast COQ2 |
702725 |
| 2.5.1.39 | metabolism |
the enzyme catalyzes one of the first steps in ubiquinone or coenzyme Q, CoQ, biosynthesis |
723550 |
| 2.5.1.39 | metabolism |
the enzyme is involved in menaquinone biosynthesis. Blocking ubiquinone synthesis pathway by site-directed mutagenesis of the active site of UbiA in Elizabethkingia meningoseptica is a promising strategy to increase menaquinone K production in Elizabethkingia meningoseptica |
760056 |
| 2.5.1.39 | metabolism |
the gene confers salt tolerance in Salvia miltiorrhiza through enhancing the activities of peroxidase (POD) and catalase (CAT) to scavenge ROS |
759945 |
| 2.5.1.39 | physiological function |
4-hydroxybenzoate transferase activity is high during birth and 18 months of age in rat brain |
705488 |
