The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene.
Pathway
Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Creatine metabolism, organism-specific biosystem; Creatine pathway, organism-specific biosystem; Creatine pathway, conserved biosystem; Glycine, serine and threonine metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, conserved biosystem;
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More
Citations
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Almeida, LS; Vilarinho, L; et al. A COMMON GAMT MUTATION (W20S) IN PORTUGAL. JOURNAL OF INHERITED METABOLIC DISEASE 28:225-225(2005).
Sinha, A; Von Both, I; et al. ASSESSMENT OF CREATINE AND GUANIDINOACETIC ACID IN BRAIN, LIVER AND KIDNEY OF AGAT AND GAMT DEFICIENT MICE BY MEANS OF CATION-EXCHANGE HPLC WITH POST COLUMN DERIVATIZATION. JOURNAL OF INHERITED METABOLIC DISEASE 33:S99-S99(2010).
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COA
Certificate of Analysis