DGUOK
Chr 2ARdeoxyguanosine kinase
Also known as: MTDPS3, NCPH, NCPH1, PEOB4, dGK
The protein phosphorylates purine deoxyribonucleosides in the mitochondrial matrix, which is essential for mitochondrial DNA synthesis and maintenance. Autosomal recessive mutations cause mitochondrial DNA depletion syndrome 3 (hepatocerebral type), progressive external ophthalmoplegia with mitochondrial DNA deletions, and noncirrhotic portal hypertension through dominant negative mechanisms that impair mitochondrial nucleotide metabolism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DGUOK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools