Annotation inferences using phylogenetic trees
Combined Automated Annotation using Multiple IEA Methods
Guanidinoacetate N-methyltransferase (GAMT), Homo sapiens - UniProtKB Q14353
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.
"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
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.