Annotation inferences using phylogenetic trees
Combined Automated Annotation using Multiple IEA Methods
Guanidinoacetate N-methyltransferase (GAMT), Homo sapiens - UniProtKB Q14353
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GAMT converts guanidinoacetate to creatine using S-adenosylmethionine as the methyl donor; creatine biosynthesis step 2/2.
"Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor"
Architecture of the human interactome defines protein communities and disease networks.
A reference map of the human binary protein interactome.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
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Severe deficiency of GAMT activity in liver causes guanidinoacetate accumulation in brain, creatine deficiency, and a treatable neurodevelopmental disorder.
"In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver."
The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice.
guanidinoacetate + S-adenosylmethionine => creatine + S-adenosylhomocysteine