NAGS rabbit pAb

catalytic activity:Acetyl-CoA + L-glutamate = CoA + N-acetyl-L-glutamate.,disease:Defects in NAGS are the cause of N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]. NAGSD is a rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness.,enzyme regulation:Increased by L-arginine.,function:Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity.,online information:N-acetylglutamate synthase entry,pathway:Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4.,PTM:Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated.,similarity:Belongs to the acetyltransferase family.,similarity:Contains 1 N-acetyltransferase domain.,tissue specificity:Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue.,