Anti-GATM Antibody Picoband® fluoro594 Vervoeging

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.

GATM; AGAT; Glycine amidinotransferase, mitochondrial; EC 2.1.4.1; L-arginine:glycine amidinotransferase; Transamidinase

GATM

2628

P50440

Human, Mouse, Rat

No cross-reactivity with other proteins

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.

Flow Cytometry

Immunogen affinity purified.

Liquid

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

48 kDa

6

Glycine amidinotransferase

Glycine amidinotransferase, mitochondrial

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.