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Mouse Anti-NARS2 Recombinant Antibody (10G5) (CBMAB-N1204-WJ)

This product is a Mouse antibody that recognizes NARS2. The antibody 10G5 can be used for immunoassay techniques such as: WB.
See all NARS2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
10G5
Antibody Isotype
IgG2a
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a
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!]

Format
Liquid
Buffer
PBS, pH 7.3, 1% BSA, 50% glycerol
Preservative
0.02% sodium azide
Concentration
1 mg/mL
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
Asparaginyl-TRNA Synthetase 2, Mitochondrial
Introduction
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
Entrez Gene ID
79731
UniProt ID
Q96I59
Alternative Names
Asparaginyl-TRNA Synthetase 2, Mitochondrial; Asparaginyl-TRNA Synthetase 2, Mitochondrial (Putative); Asparagine TRNA Ligase 2, Mitochondrial (Putative); Deafness, Autosomal Recessive 94; EC 6.1.1.22; ASNRS; Probable Asparaginyl-TRNA Synthetase, Mitochondrial;
Biological Process
Asparaginyl-tRNA aminoacylation Source: UniProtKB
Cellular Location
Mitochondrion matrix
Mitochondrion
Involvement in disease
Combined oxidative phosphorylation deficiency 24 (COXPD24):
An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
Deafness, autosomal recessive, 94 (DFNB94):
A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Yang, N., Chen, L., Zhang, Y., Wu, X., Hao, Y., Yang, F., ... & Liang, J. (2024). Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. BMC Pediatrics, 24(1), 1-14.

Khodaeian, M., Bitarafan, F., Garrousi, F., Sardehie, E. A., Pak, N., Hosseinpour, S., ... & Tavasoli, A. R. (2023). Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage. Journal of Clinical Laboratory Analysis, 37(21-22), e24983.

Zhang, Y., Zhao, X., Xu, Y., Chen, L., Li, N., Yao, R., ... & Yu, T. (2022). Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24. Translational Pediatrics, 11(4), 448.

Tanaka, R., Takeguchi, R., Kuroda, M., Suzuki, N., Makita, Y., Yanagi, K., ... & Takahashi, S. (2022). Novel NARS2 variant causing leigh syndrome with normal lactate levels. Human Genome Variation, 9(1), 12.

Saadi, S. A. E. M., Kaphan, E., Jaurrieta, A. M., Fragaki, K., Chaussenot, A., Bannwarth, S., ... & Rouzier, C. (2022). Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. European Journal of Medical Genetics, 65(12), 104643.

Vafaee-Shahi, M., Farhadi, M., Razmara, E., Morovvati, S., Ghasemi, S., Abedini, S. S., ... & Falah, M. (2022). Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations. Irish Journal of Medical Science (1971-), 191(4), 1877-1890.

Yagasaki, H., Sano, F., Narusawa, H., Watanabe, D., Kaga, Y., Kobayashi, K., ... & Inukai, T. (2022). Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. American Journal of Medical Genetics Part A, 188(8), 2466-2471.

Hu, W., Fang, H., Peng, Y., Li, L., Guo, D., Tang, J., ... & Ning, Z. (2022). Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations. Frontiers in Neuroscience, 16, 1076183.

Sofou, K., Kollberg, G., Hedberg-Oldfors, C., & Oldfors, A. (2021). The phenotypic variability and natural history of NARS2 associated disease. European Journal of Paediatric Neurology, 31, 31-37.

Štěrbová, K., Vlčková, M., Hansíková, H., Sebroňová, V., Sedláčková, L., Pavlíček, P., & Laššuthová, P. (2021). Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review. neurogenetics, 22(4), 359-364.

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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.).

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