Aspartyl tRNA Synthetase 2, Mitochondrial (DARS2)

DARS2 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). The deduced 645-amino acid protein has a 47-amino acid mitochondrial targeting signal, resulting in a mature protein of 598 amino acids. DARS2 contains conserved residues involved in ATP binding, tRNA binding, and aspartic acid recognition, as well as catalytic site motifs characteristic of amino acid tRNA synthetases.DARS2 aminoacylated purified E. coli tRNA-asp and in vitro transcribed human mitochondrial tRNA-asp (MTTD). Gel-filtration chromatography showed that recombinant DARS2 formed dimers.