Recombinant Human POMGNT1 Protein (His Tag)
SKU: PKSH032917-50
Recombinant Human POMGNT1 Protein (His Tag)
| SKU # | PKSH032917 |
| Expression Host | HEK293 Cells |
Description
| Synonyms | 2-N-Acetylglucosaminyltransferase 1, 2-N-Acetylglucosaminyltransferase I.2, MGAT1.2, POMGNT1, POMGnT1, Protein O-Linked-Mannose Beta-1, UDP-GlcNAc:Alpha-D-Mannoside Beta-1 |
| Species | Human |
| Expression Host | HEK293 Cells |
| Sequence | Leu59-Thr660 |
| Accession | Q8WZA1 |
| Calculated Molecular Weight | 69.3 kDa |
| Observed Molecular Weight | 74 kDa |
| Tag | C-His |
| Bio-activity | Not validated for activity |
Properties
| Purity | > 90 % as determined by reducing SDS-PAGE. |
| Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method. |
| Storage | Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles. |
| Shipping | This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at < - 20°C. |
| Formulation | Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 10% Glycerol, pH 8.5. |
| Reconstitution | Not Applicable |
Background
Protein O-Linked-Mannose β-1 2-N-Acetylglucosaminyltransferase 1 (POMGNT1) belongs to the Glycosyltransferase 13 family. Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. It is suggested that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form. Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3).