Specifications
Immunogen
A synthetic peptide of human GATM is used for rabbit immunization.
Target
Alternative Names
GATM; glycine amidinotransferase (L-arginine:glycine amidinotransferase); glycine amidinotransferase, mitochondrial; AGAT; transamidinase; L-arginine:glycine amidinotransferase; AT;
Product Background
Antigen Description
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.
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;
Citations
Publication ()
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