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YARS2 encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Additionally we are shipping tyrosyl-tRNA Synthetase 2, Mitochondrial Antibodies (32) and many more products for this protein.
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The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation in mitochondrial myopathy.
The mutation in YARS2 gene is a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
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.
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.
first example of a TyrRS (show Yars Proteins) lacking specificity toward N1-N72 and thus of a TyrRS (show Yars Proteins) disobeying the identity rules
The YARS2 mutation reported here is an alternative cause of MLASA.
The gene for mitochondrial tyrosyl-tRNA synthetase (show Yars Proteins) 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 (show EPRS Proteins).
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
This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2).
tyrosine--tRNA ligase, mitochondrial
, tyrosyl-tRNA synthetase, mitochondrial
, tyrosine tRNA ligase 2, mitochondrial