DGUOK

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
Orthologs
SpeciesHumanMouse
Entrez

1716

27369

Ensembl

ENSG00000114956

ENSMUSG00000014554

UniProt

Q16854

Q9QX60

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

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

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

References

  1. GRCh38: Ensembl release 89: ENSG00000114956 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000014554 - Ensembl, 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. "Entrez Gene: DGUOK deoxyguanosine kinase".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.