Gene Symbol | DGUOK |
Entrez Gene ID | 1716 |
Full Name | deoxyguanosine kinase |
Synonyms | MTDPS3,NCPH,PEOB4,dGK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3); Portal hypertension, noncirrhotic, 617068 (3) |