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Mouse Anti-FARS2 Recombinant Antibody (CBXF-0301) (CBMAB-F0335-CQ)

This product is a mouse antibody that recognizes FARS2. The antibody CBXF-0301 can be used for immunoassay techniques such as: ELISA, WB.
See all FARS2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXF-0301
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a, κ
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 7.2
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
phenylalanyl-tRNA synthetase 2, mitochondrial
Introduction
This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants.
Entrez Gene ID
10667
UniProt ID
O95363
Alternative Names
Phenylalanyl-TRNA Synthetase 2, Mitochondrial; Phenylalanine-TRNA Synthetase 1 (Mitochondrial); Phenylalanine TRNA Ligase 2, Mitochondrial; EC 6.1.1.20; FARS1; PheRS; DJ520B18.2 (FARS1 (Phenylalanine-TRNA Synthetase)); DJ236A3.1 (Phenylalanine-TRNA Synthetase); Phenylalanine--TRNA Ligase, Mitochondrial;
Research Area
Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.
Biological Process
Phenylalanyl-tRNA aminoacylation Source: UniProtKB
tRNA aminoacylation for protein translation Source: Reactome
tRNA processing Source: UniProtKB
Cellular Location
Mitochondrion matrix; Mitochondrion
Involvement in disease
Combined oxidative phosphorylation deficiency 14 (COXPD14):
A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.
Spastic paraplegia 77, autosomal recessive (SPG77):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Chen, X., Liu, F., Li, B., Wang, Y., Yuan, L., Yin, A., ... & Chen, K. (2022). Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function. Cell & bioscience, 12(1), 1-23.

Mo, L., Li, R., He, C., Chen, Q., Xu, C., Shen, L., ... & Wu, Y. (2022). Hedgehog pathway is negatively regulated during the development of Drosophila melanogaster PheRS-m (Drosophila homologs gene of human FARS2) mutants. Human Cell, 1-11.

Fan, W., Jin, X., Xu, M., Xi, Y., Lu, W., Yang, X., ... & Ge, W. (2021). FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism. Nucleic acids research, 49(22), 13108-13121.

Powers, K. T., & Santoro, J. D. (2021). Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid. Molecular Genetics and Metabolism Reports, 27, 100756.

Hotait, M., Nasreddine, W., El-Khoury, R., Dirani, M., Nawfal, O., & Beydoun, A. (2020). FARS2 mutations: more than two phenotypes? A case report. Frontiers in Genetics, 11, 787.

Ville, D., Lesca, G., Labalme, A., Portes, V. D., Arzimanoglou, A., & de Bellescize, J. (2020). Early‐onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant. Epileptic Disorders, 22(3), 327-335.

Almannai, M., Faqeih, E., El-Hattab, A. W., & Wong, L. J. C. (2019). FARS2 deficiency.

Chen, Z., & Zhang, Y. (2019). A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene. International Journal of Neuroscience, 129(11), 1094-1097.

Almannai, M., Wang, J., Dai, H., El-Hattab, A. W., Faqeih, E. A., Saleh, M. A., ... & Wong, L. J. C. (2018). FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Molecular genetics and metabolism, 125(3), 281-291.

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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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