DGUOK deoxyguanosine kinase
Gene ID: 1716, updated on 19-Sep-2024Gene type: protein coding
Also known as: dGK; NCPH; NCPH1; PEOB4; MTDPS3
- See all available tests in GTR for this gene
- Go to complete Gene record for DGUOK
- Go to Variation Viewer for DGUOK variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. GeneReviews: Not available | |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MedGen: C5191055OMIM: 251880GeneReviews: Deoxyguanosine Kinase Deficiency, Mitochondrial DNA Maintenance Defects Overview | See labs |
| Portal hypertension, noncirrhotic, 1 | See labs |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | See labs |
Genomic context
- Location:
- 2p13.1
- Sequence:
- Chromosome: 2; NC_000002.12 (73926880..73958946)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DGUOK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DGUOK database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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