PARS2 Antibody, HRP conjugated

1. study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity. PMID: 29915213
2. Depending on available data of six patients from three families, we describe a phenotype linked to PARS2 pathological variants. This phenotype includes: early epileptic encephalopathy, infantile spasms, and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS). PMID: 29410512
3. The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. PMID: 28077841
4. The PARS2 gene produced a significant association signal in a recent replication study of all known CRS-associations and is now the first human gene to be re-sequenced within CRS research. PARS2 showed an accumulation of low-frequency variants in CRS patients compared to background populations. PMID: 27348859
5. unusual 2.0 A structure showing that ATP directly locks onto and orients two parts of halofuginone (HF) onto human ProRS, so that one part of HF mimics bound proline and the other mimics the 3' end of bound tRNA. PMID: 23263184

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HGNC: 30563

OMIM: 612036

KEGG: hsa:25973

STRING: 9606.ENSP00000360327

UniGene: Hs.380169