|Other Names||Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine 2-epimerase (hydrolyzing), UDP-GlcNAc-2-epimerase, Uridine diphosphate-N-acetylglucosamine-2-epimerase, N-acetylmannosamine kinase, ManAc kinase, GNE, GLCNE|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.|
|Tissue Location||Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.|
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The protein encoded by this gene is a bifunctional enzymethat initiates and regulates the biosynthesis of N-acetylneuraminicacid (NeuAc), a precursor of sialic acids. It is a rate-limitingenzyme in the sialic acid biosynthetic pathway. Sialic acidmodification of cell surface molecules is crucial for theirfunction in many biologic processes, including cell adhesion andsignal transduction. Differential sialylation of cell surfacemolecules is also implicated in the tumorigenicity and metastaticbehavior of malignant cells. Mutations in this gene are associatedwith sialuria, autosomal recessive inclusion body myopathy, andNonaka myopathy. Alternative splicing of this gene results intranscript variants encoding different isoforms. [provided byRefSeq].
Stober, A., et al. Neuromuscul. Disord. 20(5):335-336(2010)Reinke, S.O., et al. Glycoconj. J. 26(4):415-422(2009)Tong, Y., et al. PLoS ONE 4 (10), E7165 (2009) :Reinke, S.O., et al. FEBS Lett. 581(17):3327-3331(2007)Watts, G.D., et al. Neuromuscul. Disord. 13 (7-8), 559-567 (2003) :
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