Anti-GATM Antibody Picoband® Fluoro647 Conjugated

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene. 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.

E.coli-derived human GATM recombinant protein (Position: M1-E279) . Human GATM shares 95.3% and 95% amino acid (aa) sequence identity with mouse and rat GATM, respectively.

1. Battini, R., Leuzzi, V., Carducci, C., Tosetti, M., Bianchi, M. C., Item, C. B., Stockler-Ipsiroglu, S., Cioni, G. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Molec. Genet. Metab. 77: 326-331, 2002. 2. Bianchi, M. C., Tosetti, M., Fornai, F., Alessandri, M. G., Cipriani, P., De Vito, G., Canapicchi, R. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann. Neurol. 47: 511-513, 2000. 3. Choe, C., Nabuurs, C., Stockebrand, M. C., Neu, A., Nunes, P., Morellini, F., Sauter, K., Schillemeit, S., Hermans-Borgmeyer, I., Marescau, B., Heerschap, A., Isbrandt, D. L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. Hum. Molec. Genet. 22: 110-123, 2013. Note: Erratum: Hum. Molec. Genet.: 22: 4030 only, 2013.