DNTP003014
dATP
dNTP Pool | |
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Pool identifier | POOL000779 |
Members of this Pool |
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Members of control pools |
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POOL000777 |
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Last modified: 10/Sep/2021
Results | |
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Publication |
Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O: Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.,
Biochem Biophys Res Commun, 2003
PubMed |
Value | 0.45 | Dimension | pmol/106 cell |
Error | Error not provided. |
Data presentation in publication | numerical |
Source | |
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Source organism |
human
(Homo sapiens)
Taxonomy 9606 |
Sample source | primary cells |
Cell line/type as in publication | fibroblast |
Compartment | mitochondrion |
Experiment Details | |
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Measurement type | dNTP incorporation assay |
Extraction method | methanol |
Remarks to measurement type | radioactive Sherman and Fyfe 1989 |
Growth conditions | Patient 2 homozygous for TK2 His90Asn mutation |
Treatment |
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Genes and Proteins | |
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Gene name | TK2 |
Gene identifier | 7084 |
Protein name | Thimidyne kinase 2, mitochondrial |
Protein identifier | O00142 |
Genetic manipulation/variation | genetic variation |
Mutation in protein | H90N |