DARS2 aspartyl-tRNA synthetase 2, mitochondrial

Gene ID: 55157, updated on 9-Dec-2024
Gene type: protein coding
Also known as: LBSL; ASPRS; mtAspRS; MT-ASPRS

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MedGen: C1970180OMIM: 611105GeneReviews: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation	See labs

Genomic context

Location:: 1q25.1

Sequence:: Chromosome: 1; NC_000001.11 (173824673..173858546)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DARS2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
DARS2 database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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