mouse kidney tissue were subjected to SDS PAGE followed by western blot with FNab03368(GATM antibody) at dilution of 1:1000
Immunohistochemistry of paraffin-embedded human liver using FNab03368(GATM antibody) at dilution of 1:100
Background
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.