NARS2 Antibody

1. NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115. PMID: 30088171
2. 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
3. Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05. PMID: 25649651
4. In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2 PMID: 25807530
5. A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases. PMID: 25385316

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HGNC: 26274

OMIM: 256000

KEGG: hsa:79731

STRING: 9606.ENSP00000281038

UniGene: Hs.503389