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Gene Review

DARS2  -  aspartyl-tRNA synthetase 2, mitochondrial

Homo sapiens

Synonyms: ASPRS, AspRS, Aspartate--tRNA ligase, mitochondrial, Aspartyl-tRNA synthetase, FLJ10514, ...
 
 
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High impact information on DARS2

  • Sequencing of genes in this candidate region uncovered mutations in DARS2, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families [1].

References

  1. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Scheper, G.C., van der Klok, T., van Andel, R.J., van Berkel, C.G., Sissler, M., Smet, J., Muravina, T.I., Serkov, S.V., Uziel, G., Bugiani, M., Schiffmann, R., Krägeloh-Mann, I., Smeitink, J.A., Florentz, C., Van Coster, R., Pronk, J.C., van der Knaap, M.S. Nat. Genet. (2007) [Pubmed]
 
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