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Literature summary for 2.7.7.7 extracted from

  • Yamanaka, H.; Gatanaga, H.; Kosalaraksa, P.; Matsuoka-Aizawa, S.; Takahashi, T.; Kimura, S.; Oka, S.
    Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment (2007), J. Infect. Dis., 195, 1419-1425.
    View publication on PubMed

Application

Application Comment Organism
medicine mutation R964C is identified in a patient with lactic acidosis. Recombinant R964C Pol gamma shows only 14% activity of wild-type enzyme. The mutation could be associated with the severe lactic acidosis induced by long-term use of nucleoside reverse-transcriptase inhibitors Homo sapiens

Protein Variants

Protein Variants Comment Organism
R964C mutation identified in a patient with lactic acidosis. Recombinant R964C Pol gamma shows only 14% activity of wild-type enzyme. The mutation could be associated with the severe lactic acidosis induced by long-term use of nucleoside reverse-transcriptase inhibitors Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
deoxynucleoside triphosphate + DNAn polymerase gamma is required for replication of mitochondrial DNA Homo sapiens diphosphate + DNAn+1
-
?

Synonyms

Synonyms Comment Organism
DNA polymerase gamma
-
Homo sapiens
Pol gamma
-
Homo sapiens