The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009].
Scheper, van der Klok, van Andel, van Berkel, Sissler, Smet, Muravina, Serkov, Uziel, Bugiani, Schiffmann, Krägeloh-Mann, Smeitink, Florentz, Van Coster, Pronk, van der Knaap: "Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation." in: Nature genetics, Vol. 39, Issue 4, pp. 534-9, (2007) (PubMed).
Bonnefond, Fender, Rudinger-Thirion, Giegé, Florentz, Sissler: "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS." in: Biochemistry, Vol. 44, Issue 12, pp. 4805-16, (2005) (PubMed).