Recombinant Human N-Acetylmannosamine Kinase/GNE Protein, CF

Catalog # Availability Size / Price Qty
8268-GK-050
R&D Systems Recombinant Proteins and Enzymes
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Recombinant Human N-Acetylmannosamine Kinase/GNE Protein, CF Summary

Product Specifications

Accession #
N-terminal Sequence
Analysis
Met & Leu410
Predicted Molecular Mass
34 kDa
SDS-PAGE
31-39 kDa, reducing conditions

Product Datasheets

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8268-GK

Carrier Free

What does CF mean?

CF stands for Carrier Free (CF). We typically add Bovine Serum Albumin (BSA) as a carrier protein to our recombinant proteins. Adding a carrier protein enhances protein stability, increases shelf-life, and allows the recombinant protein to be stored at a more dilute concentration. The carrier free version does not contain BSA.

What formulation is right for me?

In general, we advise purchasing the recombinant protein with BSA for use in cell or tissue culture, or as an ELISA standard. In contrast, the carrier free protein is recommended for applications, in which the presence of BSA could interfere.

8268-GK

Formulation Supplied as a 0.2 μm filtered solution in Tris, NaCl and DTT.
Shipping The product is shipped with polar packs. Upon receipt, store it immediately at the temperature recommended below.
Stability & Storage: Store the unopened product at -70 °C. Use a manual defrost freezer and avoid repeated freeze-thaw cycles. Do not use past expiration date.
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Background: N-Acetylmannosamine Kinase/GNE

Sialic acid modification of cell surface molecules is crucial for many biologic processes, such as cell adhesion (1), formation or masking of recognition determinants (2), and stabilization of glycoprotein structure of glycoproteins (3). Furthermore, sialic acids are over-expressed in many tumor cells (4) and are associated with a higher metastatic potential (5). The rate limiting enzyme of sialic acid biosynthesis is a bifunctional enzyme, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), that converts UDP-GlcNAc to ManNAc and subsequently phosphorylates the ManNAc to ManNAc 6-phosphate (6). The activity of GNE is regulated through feedback inhibition by the downstream product, CMP-sialic acid (7). In humans, GNE mutation causes two genetic diseases, sialuria (8) and hereditary inclusion body myopathy (HIBM). In sialuria, a mutation of either Arg-263 or Arg-266 in the epimerase domain impairs the feedback inhibition of GNE (9). HIBM is an autosomal recessive neuromuscular disorder caused by more than 60 different point mutations (10).The recombinant human N-Acetylmannosamine Kinase only contains the kinase domain (11). The kinase activity was measured using a phosphatase-coupled method (12).

References
  1. Varki, A. (2007) Nature 446:1023.
  2. Karlsson, K.-A. (1995) Curr. Opin. Struct. Biol. 5:622.
  3. Rens-Domiano, S. and Reisine, T. (1991) J. Biol. Chem. 266:20094.
  4. Roth, J. et al. (1988) Proc. Natl. Acad. Sci. U. S. A. 85:2999.
  5. Bresalier, R. S. et al. (1990) Cancer Res. 50:1299.
  6. Stasche, R. et al. (1997) J. Biol. Chem. 273: 24319.
  7. Kornfeld, S. et al. (1964) Proc. Natl.Acad. Sci. U.S.A. 52:371.
  8. Weiss, P. et al. (1989) J. Biol. Chem. 264:17635.
  9. Eisenberg, I. et al. (2001) Nat. Genet. 29:83.
  10. Huizing, M. and Krasnewich, D. M. (2009) Biochim. Biophys. Acta 1792:881.
  11. Martinez, J. et al. (2012) J. Biol. Chem. 287:13656.
  12. Wu, Z. (2011) PLoS ONE 6:e23172.
Long Name
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine Kinase
Entrez Gene IDs
10020 (Human); 50798 (Mouse); 114711 (Rat)
Alternate Names
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; DMRV; GLCNE; GLCNENM; glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; GNE; IBM2; NAcetylmannosamine Kinase; N-Acetylmannosamine Kinase; N-acylmannosamine kinase; Uae1; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase

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