DARS2


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 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)

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 in most individuals.