Recombinant Human Exostosin 1 Protein, CF

Catalog # Availability Size / Price Qty
8379-GT-010
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Recombinant Human Exostosin 1 Protein, CF Summary

Purity
>90%, by SDS-PAGE under reducing conditions and visualized by Colloidal Coomassie® Blue stain at 5 μg per lane
Endotoxin Level
<1.0 EU per 1 μg of the protein by the LAL method.
Activity
Measured by its ability to transfer GlcNAc and GlcA from donor substrates to heparan sulfate. The specific activity is >300 pmol/min/μg, as measured under the described conditions.
Source
Chinese Hamster Ovary cell line, CHO-derived human Exostosin 1 protein
Asp69-Leu746 with a C-terminal 6-His tag
Accession #
N-terminal Sequence
Analysis
Asp69 & Leu71
Predicted Molecular Mass
79 kDa
SDS-PAGE
65-84 kDa, reducing conditions

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Background: Exostosin 1

The exostosin (EXT) family of glycosyltransferases are involved in heparan sulfate (HS) and heparin biosynthesis (1). Mutations of these enzymes are the causes of hereditary multiple exostoses, which are characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature (2). In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma (3). Five members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are bifunctional enzymes with both beta -1,4-glucuronyltransferase and alpha -1,4-N-acetylglucosaminyltransferase activities that add alternating beta -1,4-GlcA and alpha -1,4-GlcNAc residues on the non-reducing end of HS chain (4). EXT1 is an active enzyme, but the hetero-dimer of EXT1 and EXT2 is more stable and has higher activity (1). The enzyme activity of recombinant human EXT1 is measured using a phosphatase-coupled assay (5).

References
  1. Busse, M. et al. (2007) J. Biol. Chem. 282:32802.
  2. Wuyts, W. et al. (1998) Am. J. Hum. Genet. 62:346.
  3. Hecht J.T. et al. (1997) Am. J. Hum. Genet. 60:80.
  4. Kobayashi S. et al. (2000) Biochem. Biophys. Res. Commun. 268:860.
  5. Wu, Z.L. et al. (2011) Glycobiology 21:727.
Long Name
Exostosin Glycosyltransferase 1
Entrez Gene IDs
2131 (Human); 14042 (Mouse); 299907 (Rat)
Alternate Names
EC 2.4.1.224; EC 2.4.1.225; exostoses (multiple) 1; Exostosin 1; exostosin-1; EXT; EXT1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan4-alpha-N-acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; LGCR; LGS; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT1; TRPS2; TTV

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