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

Name: Mouse Anti-NARS2 Recombinant Antibody (10G5)
SKU: CBMAB-N1204-WJ
Rating: 5 (1 reviews)

See all NARS2 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

10G5

Application

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.

More Infomation

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.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-NARS2 Recombinant Antibody (10G5)?
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)
Proteogenomics
Other Protocols

Related Products

Mouse Anti-NARS2 Recombinant Antibody (5A9) (CAT#: CBMAB-N1206-WJ)

Mouse Anti-NARS2 Recombinant Antibody (8D10) (CAT#: CBMAB-N1207-WJ)

Mouse Anti-NARS2 Recombinant Antibody (10E2) (CAT#: CBMAB-N1201-WJ)

Mouse Anti-NARS2 Recombinant Antibody (10C10) (CAT#: CBMAB-N1203-WJ)

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