Anti-PIGS Antibody Picoband® Fluoro647 Conjugated

GPI transamidase component PIG-S is an enzyme that in humans is encoded by the PIGS gene. This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins.

Detected in the sinusoidal epithelium in the red pulp of spleen. Predominantly expressed in spleen. Also detected in a range of other tissues including heart, brain, lung, liver, kidney, thymus, testis, ovary, small intestine, prostate and colon.

Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation.

1. Efthymiou, S., Dutra-Clarke, M., Maroofian, R., Kaiyrzhanov, R., Scala, M., Alvi, J. R., Sultan, T., Christoforou, M., Nguyen, T. T. M., Mankad, K., Vona, B., Rad, A., Striano, P., Salpietro, V., Guillen Sacoto, M. J., Zaki, M. S., Gleeson, J. G., Campeau, P. M., Russell, B. E., Houlden, H. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia 62: e35-e41, 2021. 2. Gross, M. B. Personal Communication. Baltimore, Md. 7/21/2020. 3. Nguyen, T. T. M., Murakami, Y., Wigby, K. M., Baratang, N. V., Rousseau, J., St-Denis, A., Rosenfeld, J. A., Laniewski, S. C., Jones, J., Iglesias, A. D., Jones, M. C., Masser-Frye, D., and 7 others. Mutations in PIGS, encoding a GPI transamidase, cause a neurological syndrome ranging from fetal akinesia to epileptic encephalopathy. Am. J. Hum. Genet. 103: 602-611, 2018.