YARS2 Antibody

1. The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation in mitochondrial myopathy. PMID: 28395030
2. The mutation in YARS2 gene is a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. PMID: 26647310
3. Data identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, suggesting that the background mtDNA haplotype may be contributing to the phenotypic variability. PMID: 24344687
4. The study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes. PMID: 22504945
5. first example of a TyrRS lacking specificity toward N1-N72 and thus of a TyrRS disobeying the identity rules PMID: 15840810
6. The YARS2 mutation reported here is an alternative cause of MLASA. PMID: 20598274
7. The gene for mitochondrial tyrosyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing synthetases have also been found with the exception of human glutaminyl-tRNA synthetase. PMID: 15779907
8. the structure of a strictly mitochondrial human synthetase, namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex with an adenylate analog at 2.2 A resolution PMID: 17997975
9. the apparent occurrence of an unusual TG 3' splice site in intron 5 is discussed PMID: 17672918

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HGNC: 24249

OMIM: 610957

KEGG: hsa:51067

STRING: 9606.ENSP00000320658

UniGene: Hs.505231