Anti-FXN Antibody Picoband® Biotin Conjugated

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.

FXN; FRDA; X25; Frataxin, mitochondrial; EC 1.16.3.1; Friedreich ataxia protein; Fxn [Cleaved into: Frataxin intermediate form; i-FXN; Frataxin (56-210; m56-FXN; Frataxin (78-210; d-FXN; m78-FXN; Frataxin mature form; Frataxin (81-210; m81-FXN]

E.coli-derived human FXN recombinant protein (Position: Q20-A210) . Human FXN shares 79% and 71.4% amino acid (aa) sequence identity with mouse and rat FXN, respectively.

1. Adamec, J., Rusnak, F., Owen, W. G., Naylor, S., Benson, L. M., Gacy, A. M., Isaya, G. Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Am. J. Hum. Genet. 67: 549-562, 2000. 2. Adinolfi, S., Trifuoggi, M., Politou, A. S., Martin, S., Pastore, A. A structural approach to understanding the iron-binding properties of phylogenetically different frataxins. Hum. Molec. Genet. 11: 1865-1877, 2002. 3. Anderson, P. A., Kirby, K., Orr, W. C., Hilliker, A. J., Phillips, J. A. Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia. Proc. Nat. Acad. Sci. 105: 611-616, 2008.