DARS2

Chr 1

aspartyl-tRNA synthetase 2, mitochondrial

Also known as: ASPRS, CMT2LL, LBSL, MT-ASPRS, mtAspRS

NCBI Gene: 55157 ENSG00000117593 UniProt: Q6PI48

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

UniProtCharcot-Marie-Tooth disease, axonal, type 2LL

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.92

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DARS2