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Products Polyclonal Anti-AIFM1
| Catalogue number: | PA2232 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Immunohistochemistry, Western Blot |
| Size: | 100?g/vial |
| Gene: | AIFM1 |
| Swiss prot: | O95831 |
| Form: | lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time.Avoid repeated freezing and thawing. |
| Scientific background: | Apoptosis-inducing factor 1, mitochondrial, also known as AIF or PDCD8 is a protein that in humans is encoded by the AIFM1 gene. AIFM1 gene is mapped to Xq26.1 based on an alignment of the AIFM1 sequence with the genomic sequence. This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. A related pseudogene has been identified on chromosome 10. |
| References: | 1. Ghezzi, D., Sevrioukova, I., Invernizzi, F., Lamperti, C., Mora, M., D'Adamo, P., Novara, F., Zuffardi, O., Uziel, G., Zeviani, M. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 86: 639-649, 2010. 2. Rinaldi, C., Grunseich, C., Sevrioukova, I. F., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., Landoure, G., Kennerson, M. L., Burnett, B. G., Bonnemann, C., Biesecker, L. G., Ghezzi, D., Zeviani, M., Fischbeck, K. H. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 91: 1095-1102, 2012. 3. Yu, S.-W., Andrabi, S. A., Wang, H., Kim, N. S., Poirier, G. G., Dawson, T. M., Dawson, V. L. Apoptosis-inducing factor mediates poly(ADP-ribose) (PAR) polymer-induced cell death. Proc. Nat. Acad. Sci. 103: 18314-18319, 2006. |
| Additional info: | A synthetic peptide corresponding to a sequence at the C-terminus of human AIFM1, identical to the related rat and mouse sequences. |
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