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Gene Review

NAGS  -  N-acetylglutamate synthase

Homo sapiens

Synonyms: AGAS, ARGA, Amino-acid acetyltransferase, N-acetylglutamate synthase, mitochondrial, NAT7
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Disease relevance of NAGS


High impact information on NAGS


Biological context of NAGS

  • In order to evaluate the impact of an urban effluent on antibiotic resistance of freshwater bacterial populations, water samples were collected from the Arga river (Spain), upstream and downstream from the wastewater discharge of the city of Pamplona [7].
  • We describe here a concise assay procedure for N-acetylglutamate (AGA) synthase (AGAS) and its application to an extensive study of tissue distribution of AGAS activity [8].
  • This method (CASSOH-ELISA) has been successfully applied for the detection of clinically important SNPs in drug metabolism, such as N-acetyltransferase 2, NAT26 (590G>A) and NAT7 (857G>A), and mitochondrial DNA (1555A>G) [9].
  • Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay [10].

Anatomical context of NAGS


Associations of NAGS with chemical compounds


  1. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Caldovic, L., Morizono, H., Panglao, M.G., Cheng, S.F., Packman, S., Tuchman, M. Hum. Genet. (2003) [Pubmed]
  2. A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? Broere, D., van Gemert, W.G., Kneepkens, C.M., Neele, D.M., Manoliu, R.A., Rauwerda, J.A., van der Knaap, M.S. Eur. J. Pediatr. (2000) [Pubmed]
  3. Brachytherapy in total coronary occlusions: Quidquid agis, prudenter agas, et respice finem. Hehrlein, C. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions. (2003) [Pubmed]
  4. N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Elpeleg, O., Shaag, A., Ben-Shalom, E., Schmid, T., Bachmann, C. Ann. Neurol. (2002) [Pubmed]
  5. Human hepatic N-acetylglutamate content and N-acetylglutamate synthase activity. Determination by stable isotope dilution. Tuchman, M., Holzknecht, R.A. Biochem. J. (1990) [Pubmed]
  6. Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver. Bachmann, C., Krähenbühl, S., Colombo, J.P. Biochem. J. (1982) [Pubmed]
  7. Impact of an urban effluent on antibiotic resistance of riverine Enterobacteriaceae and Aeromonas spp. Goñi-Urriza, M., Capdepuy, M., Arpin, C., Raymond, N., Caumette, P., Quentin, C. Appl. Environ. Microbiol. (2000) [Pubmed]
  8. Enzymological evidence for the indispensability of small intestine in the synthesis of arginine from glutamate. II. N-acetylglutamate synthase. Wakabayashi, Y., Iwashima, A., Yamada, E., Yamada, R. Arch. Biochem. Biophys. (1991) [Pubmed]
  9. Competitive allele-specific short oligonucleotide hybridization (CASSOH) with enzyme-linked immunosorbent assay (ELISA) for the detection of pharmacogenetic single nucleotide polymorphisms (SNPs). Hiratsuka, M., Ebisawa, A., Sakuyama, K., Matsubara, Y., Kure, S., Soya, Y., Konno, Y., Sasaki, T., Kishiba, A., Mizugaki, M. J. Biochem. Biophys. Methods (2006) [Pubmed]
  10. Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. Häberle, J., Denecke, J., Schmidt, E., Koch, H.G. J. Inherit. Metab. Dis. (2003) [Pubmed]
  11. Cloning and expression of the human N-acetylglutamate synthase gene. Caldovic, L., Morizono, H., Gracia Panglao, M., Gallegos, R., Yu, X., Shi, D., Malamy, M.H., Allewell, N.M., Tuchman, M. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  12. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. Caldovic, L., Morizono, H., Daikhin, Y., Nissim, I., McCarter, R.J., Yudkoff, M., Tuchman, M. J. Pediatr. (2004) [Pubmed]
  13. Differential display of mRNAs related to amino acid metabolism in the endosymbiotic system of aphids. Nakabachi, A., Ishikawa, H. Insect Biochem. Mol. Biol. (1997) [Pubmed]
  14. The use of HMG-CoA reductase inhibitors to prevent accelerated graft atherosclerosis in heart transplant patients. Southworth, M.R., Mauro, V.F. The Annals of pharmacotherapy. (1997) [Pubmed]
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