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Mouse Anti-HARS2 Recombinant Antibody (CBFYH-0707) (CBMAB-H1596-FY)

This product is mouse antibody that recognizes HARS2. The antibody CBFYH-0707 can be used for immunoassay techniques such as: WB, IHC, IF, FC.
See all HARS2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYH-0707
Antibody Isotype
IgG1
Application
WB, IHC, IF, FC

Basic Information

Immunogen
Full length human recombinant protein of human HARS2 produced in HEK293T cell
Specificity
Human
Antibody Isotype
IgG1
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
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
Histidyl-TRNA Synthetase 2, Mitochondrial
Introduction
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene.
Entrez Gene ID
23438
UniProt ID
P49590
Alternative Names
Histidyl-TRNA Synthetase 2, Mitochondrial; Histidine TRNA Ligase 2, Mitochondrial (Putative); EC 6.1.1.21; HisRS; HARSL; HARSR; HO3; Histidyl-TRNA Synthetase 2, Mitochondrial (Putative); Probable Histidyl-TRNA Synthetase, Mitochondrial; Probable Histidine--TRNA Ligase, Mitochondrial
Function
Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).
Biological Process
Histidyl-tRNA aminoacylation Source: WormBase
Translation Source: UniProtKB
tRNA aminoacylation for protein translation Source: Reactome
Cellular Location
Mitochondrion
Involvement in disease
Perrault syndrome 2 (PRLTS2):
A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.

Key, J., Gispert, S., Koornneef, L., Sleddens-Linkels, E., Kohli, A., Torres-Odio, S., ... & Auburger, G. (2022). CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2. Cells, 12(1), 52.

Gispert, S., Key, J., Kohli, A., Torres-Odio, S., Koepf, G., Amr, S., ... & Auburger, G. (2022). ClpP-Deletion Causes Azoospermia, with Meiosis-I Delay and Insufficient Biosynthesis of Spermatid Factors, Due to Mitochondrial Dysfunction with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2.

Xu, P., Wang, L., Peng, H., Liu, H., Liu, H., Yuan, Q., ... & Yang, T. (2021). Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice. Frontiers in Cellular Neuroscience, 15, 804345.

Souissi, A., Ben Said, M., Frikha, F., Elloumi, I., Masmoudi, S., & Megarbane, A. (2021). Expanding the clinical and molecular spectrum of HARS2-Perrault syndrome: identification of a novel homozygous missense variant in the HARS2 gene. Genetic Testing and Molecular Biomarkers, 25(8), 528-539.

Yu, J., Jiang, W., Cao, L., Na, X., & Yang, J. (2020). Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Hereditas, 157(1), 1-11.

Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, A., Birkebæk, N. H., ... & Tranebjærg, L. (2020). Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. European journal of medical genetics, 63(3), 103733.

Demain, L. A., Gerkes, E. H., Smith, R. J., Molina-Ramirez, L. P., O’Keefe, R. T., & Newman, W. G. (2020). A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. Journal of human genetics, 65(3), 305-311.

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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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