DNTP000075
dGTP
dNTP Pool | |
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Pool identifier | POOL000019 |
Members of this Pool |
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Members of control pools | |
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POOL000016 | POOL000017 |
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Last modified: 10/Sep/2021
Results | |
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Publication |
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
PubMed PMCID |
Value | 0.537 | Dimension | pmol/106 cell |
Error (standard error) | 0.044 |
Data presentation in publication | diagram |
Source | |
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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 | |
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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 | |
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Treatment details/effects | perturbation of deoxyguanosine metabolism |
Genes and Proteins | |
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Gene name | dguok |
Gene identifier | 1716 |
Protein name | DGUOK |
Protein identifier | Q9BVK7 |
Genetic manipulation/variation | genetic variation |
Mutation in protein | heterozygous for two different mutations, K201fs214X and IVS4 splicing site |