Application | Comment | Organism |
---|---|---|
medicine | ataxia-oculomotor apraxia, AOA1, is a neurological disorder with symptoms that overlap those of ataxiatelangiectasia, characterized by abnormal responses to double-strand DNA breaks and genome instability. The gene mutated in AOA1, APTX, codes for aprataxin which contains domains of homology with proteins involved in DNA damage signalling and repair. Cells from AOA1 show enhanced sensitivity to agents that cause single-strand breaks in DNA but there is no evidence for a gross defect in single-strand break repair | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
nucleolus | - |
Homo sapiens | 5730 | - |
nucleoplasm | - |
Homo sapiens | 5654 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q7Z2E3 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
lymphoblastoid cell | - |
Homo sapiens | - |
General Information | Comment | Organism |
---|---|---|
physiological function | aprataxin interacts with the repair proteins XRCC1, PARP-1 and p53 and colocalizes with XRCC1 along charged particle tracks on chromatin | Homo sapiens |