Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

1. DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes. PMID: 28493820
2. rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension PMID: 26874653
3. The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease . PMID: 26773591
4. sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene PMID: 27324545
5. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells PMID: 24940680
6. study expands the spectrum of disorders caused by mutations in DGUOK. PMID: 23043144
7. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure. PMID: 21107780
8. c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency PMID: 19900589
9. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. PMID: 15150663
10. Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity PMID: 12054684
11. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T). PMID: 12210798
12. This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome. PMID: 15883261
13. DGUOK activity may play a crucial role in the phenotype reversal PMID: 17073823
14. DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion. PMID: 17490647
15. 15 different mutations in the DGUOK gene from 9 kindreds, were identified. PMID: 18205204
16. study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency PMID: 19394258
17. a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK PMID: 19502998

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HGNC: 2858

OMIM: 251880

KEGG: hsa:1716

STRING: 9606.ENSP00000264093

UniGene: Hs.469022