DARS2
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Aspartyl-tRNA Synthetase 2, Mitochondrial is an enzyme which is encoded by the gene DARS2.[1]
Gene
[edit | edit source]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.[2]
Function
[edit | edit source]This protein is located in mitochondria which aminoacylates aspartate to its matching tRNA.[3]
Clinical significance
[edit | edit source]Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
[edit | edit source]LBSL is a rare genetic disorder which causes brain and spinal cord damage.[4] This disorder is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.[5]
References
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