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Literature summary extracted from

  • Saada, A.
    Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency (2008), Mol. Genet. Metab., 95, 169-173.
    View publication on PubMed

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.1.113 mitochondrion
-
 Homo sapiens 5739
-

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.113 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.113 ATP + 2'-deoxyguanosine
-
 Homo sapiens ADP + 2'-deoxyguanosine 5'-phosphate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.1.113 DGK
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.1.113 ATP
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.1.113 malfunction mitochondrial DNA depletion due to deoxyguanosine kinase deficiency is a devastating mitochondrial disease of infancy characterized by liver failure and encephalopathy and invariably a fatal outcome. The cytoplasmic deoxycytine kinase supplemented with external substrates may compensate for the deficient deoxyguanosine kinase Homo sapiens