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VARS2 / ValRS encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants.
Gene Name: | valyl-tRNA synthetase 2, mitochondrial |
Synonyms: | VARS2, Em:AB023048.4, DKFZP434L1435, G7a, Valyl-tRNA synthetase 2-like, VARS2L, Valyl-tRNA synthetase-like, VARSL, Valyl-tRNA synthetase like, KIAA1885, ValRS, Valyl-tRNA synthetase |
Target Sequences: | NP_065175.4 Q5ST30 |
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