DARS2 Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). LBSL is an autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Belongs to the class-II aminoacyl-tRNA synthetase family. Note: This description may include information from UniProtKB.
Protein type: Aminoacyl-tRNA synthetase; EC 6.1.1.12; Ligase; Mitochondrial; Translation; Translation regulation
Chromosomal Location of Human Ortholog: 1|1 H2.1
Cellular Component:  cytoplasm; mitochondrion; nucleus
Molecular Function:  aminoacyl-tRNA ligase activity; aspartate-tRNA ligase activity; aspartate-tRNA(Asn) ligase activity; ATP binding; ligase activity; nucleic acid binding; nucleotide binding; protein homodimerization activity
Biological Process:  mitochondrial asparaginyl-tRNA aminoacylation; translation; tRNA aminoacylation; tRNA aminoacylation for protein translation
Reference #:  Q8BIP0 (UniProtKB)
Alt. Names/Synonyms: 5830468K18Rik; Aspartate--tRNA ligase; Aspartate--tRNA ligase, mitochondrial; aspartyl-tRNA synthetase 2 (mitochondrial); Aspartyl-tRNA synthetase, mitochondrial; AspRS; Dars2; MGC99963; SYDM
Gene Symbols: Dars2
Molecular weight: 74,102 Da
Basal Isoelectric point: 6.52  Predict pI for various phosphorylation states
Select Structure to View Below

DARS2

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene