Anti-GATM

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. [provided by RefSeq, Jul 2008], Protein function: Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives (PubMed:3800397, PubMed:16820567, PubMed:36543883, PubMed:27233232). Catalyzes the rate- limiting step of creatine biosynthesis, namely the transfer of the amidino group from L-arginine to glycine to generate guanidinoacetate, which is then methylated by GAMT to form creatine. Provides creatine as a source for ATP generation in tissues with high energy demands, in particular skeletal muscle, heart and brain (PubMed:3800397, PubMed:36543883, PubMed:9266688, PubMed:27233232) (Probable). [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: [Isoform 1]: Mitochondrion inner membrane, Peripheral membrane protein, Intermembrane side. Probably attached to the outer side of the inner membrane., [Isoform 2]: Cytoplasm.