DARS2
Chr 1ARaspartyl-tRNA synthetase 2, mitochondrial
The protein is a mitochondrial aminoacyl-tRNA synthetase that specifically charges aspartyl-tRNA, essential for mitochondrial protein synthesis. Autosomal recessive mutations cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) and axonal Charcot-Marie-Tooth disease type 2LL through impaired mitochondrial translation. Disease mechanisms likely involve loss of enzyme function leading to defective mitochondrial protein synthesis and subsequent energy metabolism defects.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DARS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools