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Mouse Anti-NAGS Recombinant Antibody (E-8) (CBMAB-N1082-WJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
E-8
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
N-Acetylglutamate Synthase
Introduction
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]
Entrez Gene ID
162417
UniProt ID
Q8N159
Alternative Names
N-Acetylglutamate Synthase; Amino-Acid Acetyltransferase; N-Acetylglutamate Synthase, Mitochondrial; EC 2.3.1.1; AGAS; ARGA;
Function
Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity.
Biological Process
Arginine biosynthetic process Source: GO_Central
Glutamate metabolic process Source: GO_Central
Urea cycle Source: Reactome
Cellular Location
Mitochondrion matrix
Involvement in disease
N-acetylglutamate synthase deficiency (NAGSD):
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.
PTM
Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity).
More Infomation

Caldovic, L., Ahn, J. J., Andricovic, J., Balick, V. M., Brayer, M., Chansky, P. A., ... & Morizono, H. (2023). Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes. Journal of inherited metabolic disease.

Bortoluzzi, V. T., Ribeiro, R. T., Pinheiro, C. V., Castro, E. T., Tavares, T. Q., Leipnitz, G., ... & Wajner, M. (2023). N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency. Biochemical and Biophysical Research Communications, 684, 149123.

Selvanathan, A., Demetriou, K., Lynch, M., Lipke, M., Bursle, C., Elliott, A., ... & McGill, J. (2022). N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report. JIMD reports, 63(5), 420-424.

Sonaimuthu, P., Senkevitch, E., Haskins, N., Uapinyoying, P., McNutt, M., Morizono, H., ... & Caldovic, L. (2021). Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase. Scientific reports, 11(1), 3580.

Chen, J., Yuan, H., Xie, K., Guo, Z., Yang, Y., Zou, Y., ... & Liu, Y. (2020). Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency. Zhonghua yi xue yi Chuan xue za zhi= Zhonghua Yixue Yichuanxue Zazhi= Chinese Journal of Medical Genetics, 37(12), 1360-1363.

Kenneson, A., & Singh, R. H. (2020). Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature. Orphanet Journal of Rare Diseases, 15(1), 1-10.

Olgac, A., Kasapkara, C., Kilic, M., Derinkuyu, B., Azapagasi, E., Kesici, S., ... & Haberle, J. (2020). A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. Archivos argentinos de pediatria, 118(6).

Peoc'h, K., Damaj, L., Pelletier, R., Lefevre, C., Dubourg, C., Denis, M. C., ... & Moreau, C. (2020). Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family. Molecular Genetics and Metabolism Reports, 22, 100558.

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For research use only. Not intended for any clinical use.

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