Name: Human GAMT Recombinant Protein (His Tag)

Synonyms: Guanidinoacetate N-methyltransferase;GAMT;PIG2;TP53I2

Expression host: E.coli

Sequence: Met 1-Gly236

Accesstion: Q14353

Species: Human

Mol_Mass: 29.5 kDa

AP_Mol_Mass: 27-32 kDa

Tag: N-His & C-His

Purity: > 90 % as determined by reducing SDS-PAGE.


Storage: Store at

Shipping: This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at

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.

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