FunctionCatalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.
Tissue specificityExpressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.
PathwayAmine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2.
Involvement in diseaseDefects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:612718]. AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain.
Sequence similaritiesBelongs to the amidinotransferase family.
DomainOne chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.
Cellular localizationMitochondrion inner membrane. Cytoplasm. The mitochondrial form is found in the intermembrane space probably attached to the outer side of the inner membrane.