Anti-PUM1 Antibody Picoband® Fluoro488 Conjugated

Pumilio homolog 1 is a protein that in humans is encoded by the PUM1 gene. This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described.

1. Bonnemason-Carrere, P., Morice-Picard, F., Pennamen, P., Arveiler, B., Fergelot, P., Goizet, C., Hellegouarch, M., Lacombe, D., Plaisant, C., Raclet, V., Rooryck, C., Lasseaux, E., Trimouille, A. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. Am. J. Med. Genet. 179A: 1030-1033, 2019. 2. Gennarino, V. A., Palmer, E. E., McDonell, L. M., Wang, L., Adamski, C. J., Koire, A., See, L., Chen, C.-A., Schaaf, C. P., Rosenfeld, J. A., Panzer, J. A., Moog, U. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 172: 924-936, 2018. 3. Gennarino, V. A., Singh, R. K., White, J. J., De Maio, A., Han, K., Kim, J.-Y., Jafar-Nejad, P., di Ronza, A., Kang, H., Sayegh, L. S., Cooper, T. A., Orr, H. T., Sillitoe, R. V., Zoghbi, H. Y. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type ataxin1 levels. Cell 160: 1087-1098, 2015.