Valyl-tRNA synthetase 2, mitochondrial

Valyl-tRNA synthetase 2, mitochondrial or Valine--TRNA Ligase, Mitochondrial or VARS2 or VARS2L or VARSL or DKFZP434L1435 or G7a or KIAA1885 is a protein encoded by the VARS2 gene. VARS2 encodes mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation.

Function
VARS2 gene mutations cause combined oxidative phosphorylation deficiency-20, and are associated with:
 * early-onset mitochondrial encephalopathies
 * neurodevelopmental disorder With microcephaly (unusually small skull will be visible at birth)
 * seizures
 * cortical atrophy (a wasting in part of the brain matter)

Learn more

 * VARS2 - The Human Protein Atlas
 * VARS2 - Gene cards