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

Name: Mouse Anti-NAGS Recombinant Antibody (E-8)
SKU: CBMAB-N1082-WJ
Rating: 5 (1 reviews)

See all NAGS antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

E-8

Application

WB, IP, IF, ELISA

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.

More Infomation

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).

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.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-NAGS Recombinant Antibody (E-8)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry