Guanidinoacetate N-methyltransferase

• OMIM: 601240
• UniProt: Q14353

Guanidinoacetate N- methyltransferase ( GAMT ) is that enzyme, which catalyzes the production of creatine from guanidinoacetate. Creatine is indispensable as intermediate energy storage in the muscles. Mutations in the GAMT gene can lead to the ( rare ) GAMT deficiency, which is associated with neurological disorders and muscle hypotonia.

Catalyzed reaction

Guanidinoacetate ( from glycine ) is methylated to creatine to form S- adenosylmethionine is (SAM ) provides the transferred methyl group, while demethylated itself to S- adenosyl -L- homocysteine.