Aliases for VARS2 Gene
External Ids for VARS2 Gene
Previous HGNC Symbols for VARS2 Gene
Previous GeneCards Identifiers for VARS2 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]
GeneCards Summary for VARS2 Gene
VARS2 (Valyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with VARS2 include Combined Oxidative Phosphorylation Deficiency 20 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are tRNA Aminoacylation and Gene Expression. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity. An important paralog of this gene is VARS.