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The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. Additionally we are shipping NAGS Antibodies (16) and NAGS Kits (2) and many more products for this protein.
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Data indicate the formation of alternative N-acylglutamates by N-acetylglutamate synthase (NAGS).
Sp1 (show PSG1 Proteins), CREB (show CREB1 Proteins), HNF-1 (show HNF1A Proteins), and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription
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.
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.
The first mutation in NAGS has been reported in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes.
Gene product expressed in E. coli shown to have NAGS enzyme activity. Gene name provisionally was assigned as NAT7.
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
first report of mutation analysis in a series of families affected with deficiency of NAGS
3 mutations in 2 families with NAGS deficiency revealed deleterious effects on NAGS affinity for substrates & the rate of catalysis.
Three novel mutations in the NAGS gene from the families affected by autosomal recessively inherited NAGS deficiency were described and characterized.
The intestinal NAGS mRNA levels were lower in 7- to 28-day-old than in 1-day-old pigs. Immunochemical analysis revealed that NAGS protein was localized in enterocytes of the gut (show GUSB Proteins).
Sp1 (show SP1 Proteins), CREB (show CREB1 Proteins), HNF-1 (show HNF1A Proteins), and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription
Is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG)
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.
The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia.
, N-acetylglutamate synthase, mitochondrial
, amino-acid acetyltransferase
, amino-acid N-acetyltransferase