| Antigen: |
Aprataxin |
| Relevance: |
Aprataxin, a nuclear protein, is thought to be involved in single strand DNA break-repair in the cellular response to genotoxic stress through its capacity to interact with a number of proteins involved in DNA repair. These include XRCC1, XRCC4, PARP-1 and p53. The neurological disorder ataxia-oculomotor apraxia (AOA1) is caused by mutations in the APTX gene which destabilize the resultant protein, aprataxin. |
| Applications: |
Western blot, Immunoprecipitation and Immunofluorescence |
| Immunogen: |
Recombinant aprataxin |
| Reactivity: |
Human |
| Epitope: |
amino acids 1-177 |
| Species raised in: |
Rabbit |
| References: |
Clements, P.M., Breslin, C., Deeks, E.D., Byrd, P.J. Ju, L., Bieganowski, P., Brenner, C., Moreira, M.C., Taylor A.M.R., Caldecott, K.W. (2004). The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA Strand break repair proteins XRCC1 and XRCC4. DNA Repair (Amst).3(11); 1493-1502  |
| Notes: |
Positive control: Any normal lymphoblastoid or fibroblastoid cells/ cell lines
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| Image: |
Western blot using the aprataxin polyclonal Ab. There are four lanes (1-4). Each lane contains a lysate of a lymphoblastoid cell line (LCL) that we derived from either patient or control blood samples. In lanes 1 and 4, respectively, are lysates of two LCLs from two normals showing aparataxin. In lane 2 is lysate from a classical A-T patient with two truncating ATM mutations showing a normal level of aprataxin expression. Lane 3 is lysate from an AOA1 patient showing absence of aprataxin. |
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