Valine–tRNA ligase, mitochondrial, also called Valyl-tRNA synthetase 2, mitochondrial, is a protein that in humans is encoded by the VARS2 gene. Like the related enzyme VARS1, this enzyme functions as a valine–tRNA ligase.
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].
Medical significance Pathogenic (homozygous or compound heterozygous) mutations in VARS2 are associated with dysfunction of oxidative phosphorylation (an important part of cellular energy production), leading to diverse symptoms, and called combined oxidative phosphorylation deficiency-20 (COXPD20).
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Further reading