Biology:DARS2
From HandWiki
Short description: Mitochondrial enzyme
 Generic protein structure example |
Aspartyl-tRNA Synthetase 2, Mitochondrial is an enzyme which is encoded by the gene DARS2.[1]
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.[2]
Function
This protein is located in mitochondria which aminoacylates aspartate to its matching tRNA.[3]
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.[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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- ↑ "DARS2 Gene - GeneCards | SYDM Protein | SYDM Antibody" (in en). GeneCards Human Gene Database. https://www.genecards.org/cgi-bin/carddisp.pl?gene=DARS2.
- ↑ "Genome Data Viewer - NCBI". https://www.ncbi.nlm.nih.gov/gdv/browser/genome/?id=GCF_000001405.40.
- ↑ "Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation". Molecular Genetics and Metabolism Reports 38. 2024-03-01. doi:10.1016/j.ymgmr.2023.101025. ISSN 2214-4269. PMID 38125072. PMC 10731372. https://www.sciencedirect.com/science/article/pii/S221442692300071X.
- ↑ "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Kennedy Krieger Institute" (in en). https://www.kennedykrieger.org/patient-care/conditions/leukodystrophy/leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation-lbsl.
- ↑ "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation". GeneReviews®. Seattle (WA): University of Washington, Seattle. 1993. https://www.ncbi.nlm.nih.gov/books/NBK43417/. Retrieved 2025-05-09.
