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Recombinant Human GAMT Protein (His Tag)
SKU: PKSH032515-50
Recombinant Human GAMT Protein (His Tag)
| SKU # | PKSH032515 |
| Expression Host | E.coli |
Description
| Synonyms | GAMT, Guanidinoacetate N-methyltransferase, PIG2, TP53I2 |
| Species | Human |
| Expression Host | E.coli |
| Sequence | Met 1-Gly236 |
| Accession | Q14353 |
| Calculated Molecular Weight | 29.5 kDa |
| Observed Molecular Weight | 27-32 kDa |
| Tag | N-His & 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, 1mM DTT, pH 8.0. |
| Reconstitution | Not Applicable |
Background
GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.