Recombinant Human N-acetylglutamate synthase, mitochondrial (NAGS)

1. The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment. PMID: 27771289
2. Results identified 36 NAGS mutations in NAGSD patients; 61% of which are missense mutations. Phenotypes associated with these mutations in the GNAT domain are more severe than phenotypes of that of amino acid kinase domain. Enzyme activity and stability assays with 12 mutations, together with in silico structural analysis, support the pathogenic role of most NAGSD-associated mutations found. PMID: 27037498
3. Data indicate the formation of alternative N-acylglutamates by N-acetylglutamate synthase (NAGS). PMID: 23643712
4. Sp1, CREB, HNF-1, and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription PMID: 22383952
5. NAGS deficiency in humans leads to hyperammonemia and can be primary, due to mutations in the NAGS gene or secondary due to other mitochondrial aberrations that interfere with the normal function of the same enzyme. PMID: 20303810
6. After the human NAGS gene was identified, mutation analysis revealed that the older sibling on NCG therapy was homozygous for a 971G>A (W324X) mutation. PMID: 19533169
7. The first mutation in NAGS has been reported in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. PMID: 12447942
8. identification and cloning of the human NAGS gene, determination of its genomic structure, verification of the catalytic activity of the purified recombinant enzyme, and the distribution of NAGS mRNA in human tissues PMID: 12459178
9. report two deleterious mutations within the NAGS gene found in two families with infants presenting with acute neonatal disease; finding confirms the genetic origin of NAGS deficiency PMID: 12594532
10. first report of mutation analysis in a series of families affected with deficiency of NAGS PMID: 12754705
11. 3 mutations in 2 families with NAGS deficiency revealed deleterious effects on NAGS affinity for substrates & the rate of catalysis. PMID: 15714518
12. Three novel mutations in the NAGS gene from the families affected by autosomal recessively inherited NAGS deficiency were described and characterized. PMID: 15878741
13. The biochemical properties of purified recombinant human and mouse NAGS-M and NAGS-C were determined in this study with the goal of better understanding the role of the variable domain in NAGS function. PMID: 16321554
14. This is the first comprehensive report of 21 mutations that cause NAGS deficiency and of commonly found polymorphisms in the NAGS gene. PMID: 17421020
15. case with genetically verified NAGS deficiency and neonatal onset of severe hyperammonaemia PMID: 17510757
16. Report patient with OCTN2 mutations/deficiency and N-acetylglutamate synthase deficiency. PMID: 17703373
17. Gene product expressed in E. coli shown to have NAGS enzyme activity. Gene name provisionally was assigned as NAT7. PMID: 12459178

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HGNC: 17996

OMIM: 237310

KEGG: hsa:162417

STRING: 9606.ENSP00000293404

UniGene: Hs.8876