catalytic activity:L-arginine + glycine = L-ornithine + guanidinoacetate.,disease:Defects in GATM are the cause of L-arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:602360]. AGAT deficiency is a defect in creatine metabolism leading to mental retardation.,domain:One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.,pathway:Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2.,similarity:Belongs to the amidinotransferase family.,subcellular location:The mitochondrial form is found in the intermembrane space probably attached to the outer side of the inner membrane.,subunit:Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer.,tissue specificity:Kidney.,
[Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Probably attached to the outer side of the inner membrane.; [Isoform 2]: Cytoplasm.
Expressed 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.
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