Gene Review:
DARS2 - aspartyl-tRNA synthetase 2, mitochondrial
Homo sapiens
Synonyms:
ASPRS, AspRS, Aspartate--tRNA ligase, mitochondrial, Aspartyl-tRNA synthetase, FLJ10514, ...
- 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)