Anti-PUF60 Antibody Picoband® PE Conjugated

This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

PUF60; FIR; ROBPI; SIAHBP1; Poly (U-binding-splicing factor PUF60; 60 kDa poly (U-binding-splicing factor; FUSE-binding protein-interacting repressor; FBP-interacting repressor; Ro-binding protein 1; RoBP1; Siah-binding protein 1; Siah-BP1

E.coli-derived human PUF60 recombinant protein (Position: Q48-A559) . Human PUF60 shares 98.8% amino acid (aa) sequence identity with both mouse and rat PUF60.

1. Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibaek, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S., Katsanis, N. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am. J. Hum. Genet. 93: 798-811, 2013. Note: Erratum: Am. J. Hum. Genet. 93: 994 only, 2013. 2. El Chehadeh, S., Kerstjens-Frederikse, W. S., Thevenon, J., Kuentz, P., Bruel, A.-L., Thauvin-Robinet, C., Bensignor, C., Dollfus, H., Laugel, V., Riviere, J.-B., Duffourd, Y., Bonnet, C., and 19 others. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Europ. J. Hum. Genet. 25: 43-51, 2017. 3. Graziano, C., Gusson, E., Severi, G., Isidori, F., Wischmeijer, A., Brugnara, M., Seri, M., Rossi, C. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. Ophthal. Genet. 38: 590-592, 2017.