GATM Rabbit Polyclonal Antibody

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.