Entrez 1615 | Ensembl ENSG00000115866 | |
 | ||
Aliases DARS, HBSL, aspRS, aspartyl-tRNA synthetase External IDs MGI: 2442544 HomoloGene: 1032 GeneCards: DARS | ||
Aspartyl-tRNA synthetase, cytoplasmic is an enzyme that in humans is encoded by the DARS gene.
Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis.
Clinical signficance
Mutations in DARS have been identified as the cause of leukoencephalopathy, hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL).
References
DARS (gene) Wikipedia(Text) CC BY-SA