Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.[5]

DGUOK
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDGUOK, deoxyguanosine kinase, MTDPS3, dGK, NCPH, PEOB4, NCPH1
External IDsOMIM: 601465; MGI: 1351602; HomoloGene: 8456; GeneCards: DGUOK; OMA:DGUOK - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001162521
NM_013764

RefSeq (protein)

NP_001155993
NP_038792

Location (UCSC)Chr 2: 73.93 – 73.96 MbChr 6: 83.46 – 83.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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.[5]

Clinical

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Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000114956Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014554Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DGUOK deoxyguanosine kinase".

Further reading

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