Recombinant Human POMGNT1 Protein, CF

R&D Systems, part of Bio-Techne | Catalog # 7414-GT

R&D Systems, part of Bio-Techne
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7414-GT-010
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Key Product Details

Source

Sf 21 (baculovirus)

Accession #

AAH01471

Conjugate

Unconjugated

Applications

Enzyme Activity

View all POMGNT1 Proteins and Enzymes »

Product Specifications

Source

Spodoptera frugiperda, Sf 21 (baculovirus)-derived human POMGNT1 protein
Ser66-Thr660, with a C-terminal 6-His tag

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.

N-terminal Sequence Analysis

Ser66

Predicted Molecular Mass

68 kDa

SDS-PAGE

65-80 kDa, reducing conditions

Activity

Measured by its ability to transfer N-Acetyl-D-glucosamine from UDP-GlcNAc to Methyl-alpha -D-mannopyronoside.
The specific activity is >500 pmol/min/μg, as measured under the described conditions.

Formulation, Preparation and Storage

7414-GT
Formulation Supplied as a 0.2 μm filtered solution in Tris, NaCl and Glycerol.
Shipping The product is shipped with polar packs. Upon receipt, store it immediately at the temperature recommended below.
Stability & Storage Use a manual defrost freezer and avoid repeated freeze-thaw cycles.
  • 6 months from date of receipt, -20 to -70 °C as supplied.
  • 3 months, -20 to -70 °C under sterile conditions after opening.

Background: POMGNT1

Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) is a Golgi-resident type II transmembrane protein that participates in O-mannosyl glycosylation (1, 2). In particular, POMGNT1 is involved in the synthesis of the GlcNAc beta1-2Man alpha1-O-Ser/Thr moiety present on alpha-dystroglycan and other O‑mannosylated proteins (3). A phosphorylated O‑mannosyl glycan is identified as a laminin-binding ligand of alpha-dystroglycan (4) that functions as part of the transmembrane linkage between the extracellular matrix and the cytoskeleton in skeletal muscle. POMGNT1 is widely expressed in all tissues, with the highest levels found in skeletal muscle and the heart (1, 2). Mutations of POMGNT1 are associated with muscle-eye-brain (MEB) disease (5, 6, 7). MEB is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly and cerebellar hypoplasia. The enzymatic activity of the recombinant human POMGNT1 was determined using methyl-alpha -D-mannopyranoside as the acceptor substrate with a phosphatase-coupled glycosyltransferase assay (7).

References

  1. Zhang, W. et al. (2002) Biochem. J. 361:153.
  2. Yoshida, A. et al. (2001) Dev. Cell 1:717.
  3. Chiba, A. et al. (1997) J. Biol. Chem. 272:2156.
  4. Yoshida-Moriguchi, T. et al. (2010) Science 327:88.
  5. Manya, H. et al. (2003) Bichem. Biophys. Res. Commun. 320:39.
  6. Taniguchi, K. et al. (2003) Hum. Mol. Genet. 12:527.
  7. Diesen, C. et al. (2004) J. Med. Genet. 41:e115.
  8. Wu, Z.L. et al. (2011) Glycobiology 21:727.

Long Name

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Alternate Names

GnT I.2, MDDGA3, MDDGB3, MDDGC3, MEB, MGAT1.2

Entrez Gene IDs

55624 (Human); 68273 (Mouse); 362567 (Rat)

Gene Symbol

POMGNT1

UniProt

AAH01471 (Human)

Additional POMGNT1 Products

Product Documents for Recombinant Human POMGNT1 Protein, CF

Product Datasheets

Certificate of Analysis

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Product Specific Notices for Recombinant Human POMGNT1 Protein, CF

Coomassie is a registered trademark of Imperial Chemical Industries Ltd.

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