Anti-GNE Antibody Picoband® Fluoro488 Conjugated

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.

GNE; GLCNE; Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase [Includes: UDP-N-acetylglucosamine 2-epimerase; hydrolyzing; EC 3.2.1.183; UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase; N-acetylmannosamine kinase; EC 2.7.1.60; ManAc kinase]

E.coli-derived human GNE recombinant protein (Position: H49-D695) . Human GNEshares 98.9% and 98.8% amino acid (aa) sequence identity with mouse and rat GNE, respectively.

1. Arai, A., Tanaka, K., Ikeuchi, T., Igarashi, S., Kobayashi, H., Asaka, T., Date, H., Saito, M., Tanaka, H., Kawasaki, S., Uyama, E., Mizusawa, H., Fukuhara, N., Tsuji, S. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann. Neurol. 52: 516-519, 2002. 2. Argov, A., Yarom, R. 'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews. J. Neurol. Sci. 64: 33-43, 1984. 3. Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology 60: 1519-1523, 2003.