Aspartyl-tRNA Synthetase 2, Mitochondrial is an enzyme which is encoded by the gene "DARS2".
Gene.
The "DARS2" gene is located on the long arm (q) of chromosome 1 on position 25.1, from base pair from base pair 173,821,286 to base pair 173,861,933.
Function.
This protein is located in mitochondria which aminoacylates aspartate to its matching tRNA.
Clinical significance.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
LBSL is a rare genetic disorder which causes brain and spinal cord damage. This disorder is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.