Anti-POMGNT1 Antibody Picoband® Fluoro647 Conjugated

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene. This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.

E.coli-derived human POMGNT1 recombinant protein (Position: R96-E394) . Human POMGNT1 shares 99.7% amino acid (aa) sequence identity with both mouse and rat POMGNT1.

1. Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F. M., Minetti, C., Bruno, C. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. Arch. Neurol. 63: 1491-1495, 2006. 2. Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others. Molecular heterogeneity in fetal forms of type II lissencephaly. Hum. Mutat. 28: 1020-1027, 2007. 3. Clement, E. M., Godfrey, C., Tan, J., Brockington, M., Torelli, S., Feng, L., Brown, S. C., Jimenez-Mallebrera, C., Sewry, C. A., Longman, C., Mein, R., Abbs, S., Vajsar, J., Schachter, H., Muntoni, F. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch. Neurol. 65: 137-141, 2008.