Biology:VARS2
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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].
References
- ↑ "Entrez Gene: Valyl-tRNA synthetase 2, mitochondrial". https://www.ncbi.nlm.nih.gov/gene/57176. Retrieved 2018-03-21.
Further reading
- "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. doi:10.1093/nar/gkn147. PMID 18400783.
- "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. doi:10.1371/journal.pgen.1000696. PMID 19851445.
- "VARS2 V552V variant as prognostic marker in patients with early breast cancer". Med. Oncol. 28 (4): 1273–80. December 2011. doi:10.1007/s12032-010-9574-4. PMID 20503108.
- "VARS2 V552V variant as prognostic marker in patients with early breast cancer". Med. Oncol. 28 (4): 1273–80. December 2011. doi:10.1007/s12032-010-9574-4. PMID 20503108.
- "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE 5 (9): e12862. September 2010. doi:10.1371/journal.pone.0012862. PMID 20877624.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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