Anti-AMPD1 Antibody Picoband® Fluoro488 Conjugated

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene. Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.

E.coli-derived human AMPD1 recombinant protein (Position: K5-E747) . Human AMPD1 shares 92.7% amino acid (aa) sequence identity with both mouse and rat AMPD1.

1. Abe, M., Higuchi, I., Morisaki, H., Morisaki, T., Osame, M. Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromusc. Disord. 10: 472-477, 2000. 2. Castro-Gago, M., Gomez-Lado, C., Perez-Gay, L., Eiris-Punal, J., Martinez, E. P., Garcia-Consuegra, I., Martin, M. A. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. J. Child Neurol. 26: 734-737, 2011. 3. Genetta, T., Morisaki, H., Morisaki, T., Holmes, E. W. A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene. J. Biol. Chem. 276: 25589-25597, 2001.