Recombinant Human Guanidinoacetate N-Methyltransferase/GAMT (N, C-6His)
Biozol Catalog Number:
ABI-32-8260
Supplier Catalog Number:
32-8260
Alternative Catalog Number:
ABI-32-8260-50UG
Manufacturer:
Abeomics
Category:
Proteine/Peptide
Source: E. coli. MW :29.5kD. Recombinant Human GAMT is produced by our E.coli expression system and the target gene encoding Met1-Gly236 is expressed with a 6His tag at the N-terminus, 6His tag at the C-terminus. 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.
