Anti-GAMT Antibody Picoband® fluoro550 Vervoeging

Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3. The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13.

GAMT

2593

Q14353

Human, Mouse, Rat

E.coli-derived human GAMT recombinant protein (Position: M1-G236) . Human GAMT shares 88.1% and 86.8% amino acid (aa) sequence identity with mouse and rat GAMT.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Almeida, L. S., Vilarinho, L., Darmin, P. S., Rosenberg, E. H., Martinez-Munoz, C., Jakobs, C., Salomons, G. S. A prevalent pathogenic GAMT mutation (c.59G-C) in Portugal. Molec. Genet. Metab. 91: 1-6, 2007. 2. Caldeira Araujo, H., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., Tomas, H., Tavares de Almeida, I., Jakobs, C., Duran, M. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am. J. Med. Genet. 133A: 122-127, 2005. 3. Chae, Y.-J., Chung, C.-E., Kim, B.-J., Lee, M.-H., Lee, H. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. Genomics 49: 162-164, 1998.

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

6

IgG

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