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)

ME/CFS
The ME/CFS Gene Study is still collecting data, but the initial pilot study by Perez et al. (2019) found that VARS2 was one of the ten relatively common genes or gene variants that were significantly more common in people with ME/CFS.

Notable studies

 * 2019, Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study (Full text)

Learn more

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