Anti-P5CS/ALDH18A1 Antibody Picoband® Fluoro647 Conjugated

Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is mapped to 10q24.1. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.

Delta-1-pyrroline-5-carboxylate synthase; P5CS; Aldehyde dehydrogenase family 18 member A1; GK; Gamma-glutamyl kinase; GPR; Glutamate-5-semialdehyde dehydrogenase; Glutamyl-gamma-semialdehyde dehydrogenase; ALDH18A1; GSAS; P5CS; PYCS

1. Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A., Robertson, S. P. A missense mutation in ALDH18A1, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Europ. J. Hum. Genet. 16: 1176-1186, 2008. 2. Fischer, B., Callewaert, B., Schroter, P., Coucke, P. J., Schlack, C., Ott, C.-E., Morroni, M., Homann, W., Mundlos, S., Morava, E., Ficcadenti, A., Kornak, U. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molec. Genet. Metab. 112: 310-316, 2014. 3. Panza, E., Escamilla-Honrubia, J. M., Marco-Marin, C., Gougeard, N., De Michele, G., Brescia Morra, V., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Nemeth, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V., Seri, M. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. (Letter) Brain 139: e3, 2016. Note: Electronic Article.