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Literature summary for 2.7.1.113 extracted from
- Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency (2008), Mol. Genet. Metab., 95, 169-173.
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| mitochondrion | - |
Homo sapiens | 5739 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| fibroblast | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| ATP + 2'-deoxyguanosine | - |
Homo sapiens | ADP + 2'-deoxyguanosine 5'-phosphate | - |
? |  |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| DGK | - |
Homo sapiens |
Cofactor
| Cofactor | Comment | Organism | Structure |
|---|---|---|---|
| ATP | - |
Homo sapiens | |
General Information
| General Information | Comment | Organism |
|---|---|---|
| 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 |
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Release 2023.1 (January 2023)
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