VARS2 gene

valyl-tRNA synthetase 2, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 20

From UniProt:

Combined oxidative phosphorylation deficiency 20 (COXPD20): A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. [MIM:615917]

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33

Molecular Location: base pairs 30,914,208 to 30,926,459 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33
  • COXPD20
  • VALRS
  • VARS2L
  • VARSL