Anti-PIGV Antibody Picoband® Fluoro594 Conjugated

GPI mannosyltransferase 2 is an enzyme that in humans is encoded by the PIGV gene. This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI) . GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene.

Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.

1. Horn, D., Krawitz, P., Mannhardt, A., Korenke, G. C., Meinecke, P. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am. J. Med. Genet. 155A: 1917-1922, 2011. 2. Kang, J. Y. Hong, Y., Ashida, H., Shishioh, N., Murakami, Y., Morita, Y. S., Maeda, Y., Kinoshita, T. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. J. Biol. Chem. 280: 9489-9497, 2005. 3. Krawitz, P. M., Schweiger, M. R., Rodelsperger, C., Marcelis, C., Kolsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., Isau, M., Fischer, A., and 17 others. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genet. 42: 827-829, 2010.