Anti-NFU1 Antibody Picoband®

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

1. Ahting, U., Mayr, J. A., Vanlander, A. V., Hardy, S. A., Santra, S., Makowski, C., Alston, C. L., Zimmermann, F. A., Abela, L., Plecko, B., Rohrbach, M., Spranger, S., and 12 others. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front. Genet. 6: 123, 2015. 2. Cameron, J. M., Janer, A., Levandovskiy, V., MacKay, N., Rouault, T. A., Tong, W.-H., Ogilvie, I., Shoubridge, E. A., Robinson, B. H. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am. J. Hum. Genet. 89: 486-495, 2011. 3. Ganesh, S., Tsurutani, N., Suzuki, T., Ueda, K., Agarwala, K. L., Osada, H., Delgado-Escueta, A. V., Yamakawa, K. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum. Molec. Genet. 12: 2359-2368, 2003.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.