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Literature summary for 2.5.1.39 extracted from

  • Quinzii, C.M.; Lopez, L.C.; Von-Moltke, J.; Naini, A.; Krishna, S.; Schuelke, M.; Salviati, L.; Navas, P.; DiMauro, S.; Hirano, M.
    Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency (2008), FASEB J., 22, 1874-1885.
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
4-parahydroxybenzoate: polyprenyl transferase
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 Homo sapiens
COQ2
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 Homo sapiens
PHB-polyprenyltransferase
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 Homo sapiens

General Information

General Information Comment Organism
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 Homo sapiens