Thymidine-5'-triphosphate (Pubchem)
dNTP Pool
Pool identifier POOL000015
Members of this Pool
Members of control pools
POOL000016 POOL000017
Last modified: 10/Sep/2021
Franzolin E, Salata C, Bianchi V, Rampazzo C: The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase., J Biol Chem, 2015

Value 0.787
Dimension pmol/106 cell
Error Error not provided.
Data presentation in publication diagram
Source organism human (Homo sapiens)
Taxonomy 9606
Sample source cell line
Cell line/type as in publication skin fibroblast derived from patient; DDGUOK heterozygous for two different mutations; i.e. K201fs214X; IVS4 splicing site
Compartment mitochondrion
Experiment Details
Measurement type dNTP incorporation assay
Extraction method methanol
Remarks to measurement type Ferraro
Growth conditions DMEM with 4.5 g of glucose per liter; 10% (v/v) fetal calf serum; nonessential amino acids; and antibiotics
Treatment details/effects perturbation of deoxyguanosine metabolism
Genes and Proteins
Gene name dguok
Gene identifier 1716
Protein name DGUOK
Protein identifier Q9BVK7
Genetic manipulation/variation genetic variation
Mutation in protein homozygous mutation L250S