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VARS2
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. [5]
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Function
This gene 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. [provided by RefSeq, Aug 2014].
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