The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab89360 is purified using conventional chromatography techniques.
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Store in the dark. Avoid repeated freeze / thaw cycles.
pH: 8.00 Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol
Epididymis secretory protein Li 20
Guanidinoacetate N methyltransferase
Expressed in liver.
Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.
Involvement in disease
Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]. GAMT deficiency 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 (GAA) in brain and body fluids.