DARS2

DARS2
Identifiers
AliasesDARS2, ASPRS, LBSL, MT-ASPRS, aspartyl-tRNA synthetase 2, mitochondrial, mtAspRS
External IDsOMIM: 610956; MGI: 2442510; GeneCards: DARS2
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
6.1.1.12↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

55157

226539

Ensembl

ENSG00000117593

ENSMUSG00000026709

UniProt

Q6PI48

Q8BIP0

RefSeq (mRNA)

NM_018122
NM_001365212
NM_001365213

NM_172644

RefSeq (protein)

NP_060592
NP_001352141
NP_001352142
NP_060592.2

NP_766232

Location (UCSC)Chr 1: 173.82 – 173.86 MbChr 1: 160.87 – 160.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aspartyl-tRNA Synthetase 2, Mitochondrial is an enzyme which is encoded by the gene DARS2.[5]

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.[6]

Function

This protein is located in mitochondria which aminoacylates aspartate to its matching tRNA.[7]

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.[8] This disorder is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117593 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026709 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "DARS2 Gene - GeneCards | SYDM Protein | SYDM Antibody". GeneCards Human Gene Database. Archived from the original on 2022-06-21. Retrieved 2025-05-09.
  6. ^ "Genome Data Viewer - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-05-09.
  7. ^ Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, et al. (2024-03-01). "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 101025. doi:10.1016/j.ymgmr.2023.101025. ISSN 2214-4269. PMC 10731372. PMID 38125072.
  8. ^ "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Kennedy Krieger Institute". www.kennedykrieger.org. Retrieved 2025-05-09.
  9. ^ Engelen M, Abbink TE, Salomons GS, van der Knaap MS (1993). "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20506600. Retrieved 2025-05-09.

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