Anti-POGLUT1 Antibody Picoband® Fluoro594 Conjugated

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants.

Intraflagellar transport protein 88 homolog; Recessive polycystic kidney disease protein Tg737 homolog; Tetratricopeptide repeat protein 10; TPR repeat protein 10; IFT88; TG737; TTC10

A synthetic peptide corresponding to a sequence at C-terminus of human POGLUT1, which shares 92.6% and 88.9% amino acid (aa) sequence identity with mouse and rat POGLUT1, respectively.

Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.

1. Basmanav, F. B., Oprisoreanu, A.-M., Pasternack, S. M., Thiele, H., Fritz, G., Wenzel, J., Grosser, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmuller, J., and 9 others. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am. J. Hum. Genet. 94: 135-143, 2014. 2. Chu, Q., Liu, L., Wang, W. Overexpression of hCLP46 enhances Notch activation and regulates cell proliferation in a cell type-dependent manner. Cell Prolif. 46: 254-262, 2013. 3. Hanneken, S., Rutten, A., Eigelshoven, S., Braun-Falco, M., Pasternack, S. M., Ruzicka, T., Nothen, M. M., Betz, R. C., Kruse, R. Morbus Galli-Galli: klinische und histopathologische Untersuchung anhand einer Fallserie von 18 Patienten. Hautarzt 62: 842-851, 2011.