Der Kaninchen Polyklonal anti-GATM Antikörper (ABIN7247159) detektiert spezifisch GATM in IHC und ELISA.
Dieser Antikörper reagiert spezifisch mit Proben aus Human, Maus und Ratte.
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 cognitive disability, language impairment, and behavioral disorders.