产品名称
NAGS Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/162417
Human Swissprot No.
Q8N159
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q8N159/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/217214
Mouse Swissprot No.
Q8R4H7
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8R4H7
免疫原
Synthesized peptide derived from human NAGS AA range: 361-411
特异性
This antibody detects endogenous levels of NAGS at Human/Mouse
稀释度
WB 1:500-2000;IHC-p 1:50-300
宿主
Polyclonal, Rabbit,IgG
背景介绍
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. [provided by RefSeq, Jul 2008],
组织表达
Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue.
细胞定位
Mitochondrion matrix .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
