The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000 - 1/10000. Detects a band of approximately 26 kDa (predicted molecular weight: 26 kDa).
1/100 - 1/250.
Is unsuitable for Flow Cyt,ICC/IF or IP.
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.