Anti-ASS1 Picoband® Antibody Fluoro647 Conjugated

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene. It is mapped to 9q34.11. The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.

Auditory System, Domain Families, Epigenetics and Nuclear Signaling, Hlh/Leucine Zipper, Neurogenesis, Neurology Process, Neuroscience, Nuclear, Sensory System, Signaling Pathways, Stem Cells, Transcription

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.

1. Engel, K., Hohne, W., Haberle, J. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum. Mutat. 30: 300-307, 2009. 2. Rabinovich, S., Adler, L., Yizhak, K., Sarver, A., Silberman, A., Agron, S., Stettner, N., Sun, Q., Brandis, A., Helbling, D., Korman, S., Itzkovitz, S., Dimmock, D., Ulitsky, I., Nagamani, S. C. S., Ruppin, E., Erez, A. Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis. Nature 527: 379-383, 2015. 3. Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, S., Mori, M. Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia. Hum. Genet. 69: 130-134, 1985.