PARS2 Antibody
Description
Introduction to PARS2 Antibody
The PARS2 antibody is a specialized immunological tool designed to detect and study Prolyl-tRNA synthetase 2, mitochondrial (PARS2), a protein critical for mitochondrial translation and oxidative phosphorylation. PARS2 catalyzes the attachment of proline to its cognate tRNA, a step essential for mitochondrial protein synthesis . Dysregulation of PARS2 is linked to mitochondrial disorders, including early infantile epileptic encephalopathy (EIEE75) and cardiomyopathy . Antibodies targeting PARS2 enable researchers to investigate its expression, localization, and functional roles in health and disease.
Epitope Mapping and Immunogen Design
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The CAB16512 antibody targets a 190-amino acid region (residues 30–220) of PARS2, ensuring high specificity for mitochondrial isoforms .
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Proteintech’s 15864-1-AP uses a fusion protein immunogen, validated for consistent reactivity across species .
Functional Validation
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Blocking Assays: The NBP2-54971PEP recombinant antigen is used to confirm antibody specificity by competing with endogenous PARS2 in binding assays .
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Disease Research: Antibodies like CAB16512 have been employed in studies identifying PARS2 mutations in mitochondrial cardiomyopathy .
Mitochondrial Disorders
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Cardiomyopathy: A 2024 study identified novel PARS2 compound heterozygous variants (c.283G>A and c.953C>T) in a patient with lethal cardiomyopathy, validated using PARS2 antibodies in protein expression analyses .
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Neurological Disease: Antibodies detected reduced PARS2 levels in brain tissues of patients with developmental delay and seizures .
Protein Localization
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Subcellular Distribution: The Human Protein Atlas confirms PARS2’s mitochondrial localization using IHC and immunofluorescence .
Clinical and Therapeutic Implications
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Diagnostic Use: PARS2 antibodies aid in diagnosing EIEE75 and cardiomyopathy by identifying protein expression anomalies .
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Therapeutic Targets: Research using these antibodies highlights PARS2’s role in mitochondrial bioenergetics, suggesting potential for antioxidant therapies to mitigate disease progression .
Limitations and Future Directions
Product Specs
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Target Background
Relevant Research Studies:
- This study offers compelling evidence supporting the role of PARS2 in the pathogenesis of related infantile-onset encephalopathy. The findings contribute to understanding the phenotypic features of this condition and provide clinical and molecular insights for diagnosis. PMID: 29915213
- Based on data from six patients across three families, this study describes a phenotype associated with pathological variants in PARS2. This phenotype includes early epileptic encephalopathy, infantile spasms, and Alpers-like brain MRI changes, characterized by a predominant loss of frontal cerebral volume (FCVL-AS). PMID: 29410512
- Individuals with mutations in PARS2 and NARS2 exhibit similar neurological characteristics to those previously reported, with variations in clinical presentation, such as hearing loss and seizure type. PMID: 28077841
- The PARS2 gene demonstrated a significant association signal in a recent replication study of known CRS-associations. It is the first human gene to be re-sequenced within CRS research. PARS2 exhibited an accumulation of low-frequency variants in CRS patients compared to control populations. PMID: 27348859
- An unusual 2.0 Å structure reveals that ATP directly binds to and orients two parts of halofuginone (HF) onto human ProRS. One part of HF mimics bound proline, while the other mimics the 3' end of bound tRNA. PMID: 23263184
