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Literature summary for 3.6.1.70 extracted from
- The novel human gene aprataxin is directly involved in DNA single-strand-break repair (2005), Cell. Mol. Life Sci., 62, 485-491.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | cells of an ataxia-oculomotor apraxia type 1 patient, homozygous for aprataxin mutation T739C, treated with camptothecin, inhibitor of DNA topoisomerase I which induces DNA single-strand breaks, show marked and dose-related increases in induced chromosomal aberrations compared to the intrafamilial wild-type control | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| T739C | homozygous mutation idientified in a patient with ataxia-oculomotor apraxia type 1 | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | FLJ20157 | - |
- |
General Information
| General Information | Comment | Organism |
|---|---|---|
| physiological function | aprataxin is directly involved in DNA single-strand-break repair | Homo sapiens |
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Release 2023.1 (January 2023)
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