Rabbit Anti-NADSYN1 Recombinant Antibody (CBWJN-1158) (CBMAB-N1064-WJ)

Name: Rabbit Anti-NADSYN1 Recombinant Antibody (CBWJN-1158)
SKU: CBMAB-N1064-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Rabbit

Clone

CBWJN-1158

Application

WB, IHC-P, FC, ICC

Specificity

Human

Antibody Isotype

IgG

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

NAD synthetase 1

Introduction

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

Entrez Gene ID

55191

UniProt ID

Q6IA69

Alternative Names

NAD Synthetase 1; NAD(+) Synthase [Glutamine-Hydrolyzing]; NAD(+) Synthetase; EC 6.3.5.1;

Function

Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source.

Biological Process

de novo' NAD biosynthetic process Source: UniProtKB
NAD biosynthetic process Source: GO_Central

Cellular Location

Cytosol
Other locations
cytoplasm

Involvement in disease

Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3):
An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy.

Jiang, L. J., Guo, S. B., Zhou, Z. H., Li, Z. Y., Zhou, F. J., Yu, C. P., ... & Tian, X. P. (2024). Snai2‐mediated upregulation of NADSYN1 promotes bladder cancer progression by interacting with PHB. Clinical and Translational Medicine, 14(1).

Erbs, E., Brasen, C. L., Lund, A. M., & Rasmussen, M. (2023). Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics. European Journal of Medical Genetics, 66(3), 104698.

Meijer, N. W., Gerrits, J., Zwakenberg, S., Zwartkruis, F. J., Verhoeven-Duif, N. M., & Jans, J. J. (2023). Metabolic Alterations in NADSYN1-Deficient Cells. Metabolites, 13(12), 1196.

Aubert‐Mucca, M., Janel, C., Porquet‐Bordes, V., Patat, O., Touraine, R., Edouard, T., ... & Baujat, G. (2023). Clinical heterogeneity of NADSYN1‐associated VCRL syndrome. Clinical Genetics, 104(1), 114-120.

Kortbawi, H., Ames, E., Pritchard, A., Devine, P., van Ziffle, J., & Slavotinek, A. (2022). Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American Journal of Medical Genetics Part A, 188(8), 2479-2484.

Alaylıoğlu, M., Dursun, E., Genc, G., Şengül, B., Bilgiç, B., Gündüz, A., ... & Gezen-Ak, D. (2022). Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson’s disease. International Journal of Neuroscience, 132(5), 439-449.

Ząbek, T., Witarski, W., Semik-Gurgul, E., Szmatoła, T., Kowalska, K., & Samiec, M. (2022). Differential expression and methylation patterns of NFATC1, NADSYN1 and JAK3 gene in equine chondrocytes expanded in monolayer culture. Research in Veterinary Science, 152, 48-52.

Lin, J., Zhao, L., Zhao, S., Li, S., Zhao, Z., Chen, Z., ... & Wu, N. (2021). Disruptive NADSYN1 variants implicated in congenital vertebral malformations. Genes, 12(10), 1615.

Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. R., Cuny, H., Drysdale, T., ... & Dunwoodie, S. L. (2020). Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders. The American Journal of Human Genetics, 106(1), 129-136.

Jones, P., Lucock, M., Chaplin, G., Jablonski, N. G., Veysey, M., Scarlett, C., & Beckett, E. (2020). Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations. Genes & Nutrition, 15(1), 1-11.

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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

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

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