VARS2 explained
Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene.[1]
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].
Further reading
- Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN . Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation . Nucleic Acids Res. . 36 . 9 . 3065–74 . May 2008 . 18400783 . 2396425 . 10.1093/nar/gkn147 .
- Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA . High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions . PLOS Genet. . 5 . 10 . e1000696 . October 2009 . 19851445 . 2758598 . 10.1371/journal.pgen.1000696 . free .
- Chae YS, Lee SJ, Moon JH, Kang BW, Kim JG, Sohn SK, Jung JH, Park HY, Park JY, Kim HJ, Lee SW . VARS2 V552V variant as prognostic marker in patients with early breast cancer . Med. Oncol. . 28 . 4 . 1273–80 . December 2011 . 20503108 . 10.1007/s12032-010-9574-4 . 27261107 .
- Chae YS, Lee SJ, Moon JH, Kang BW, Kim JG, Sohn SK, Jung JH, Park HY, Park JY, Kim HJ, Lee SW . VARS2 V552V variant as prognostic marker in patients with early breast cancer . Med. Oncol. . 28 . 4 . 1273–80 . December 2011 . 20503108 . 10.1007/s12032-010-9574-4 . 27261107 .
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ . Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression . PLOS ONE . 5 . 9 . e12862 . September 2010 . 20877624 . 2943476 . 10.1371/journal.pone.0012862 . 2010PLoSO...512862H . free .
Notes and References
- Web site: Entrez Gene: Valyl-tRNA synthetase 2, mitochondrial. 2018-03-21.
