NP_060592.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
73,563 Da
NCBI Official Full Name
aspartate--tRNA ligase, mitochondrial
NCBI Official Synonym Full Names
aspartyl-tRNA synthetase 2, mitochondrial
NCBI Protein Information
aspartate--tRNA ligase, mitochondrial
UniProt Protein Name
Aspartate--tRNA ligase, mitochondrial
UniProt Synonym Protein Names
Aspartyl-tRNA synthetase; AspRS
UniProt Synonym Gene Names
UniProt Entry Name
SYDM_HUMAN
NCBI Summary for DARS2
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]
UniProt Comments for DARS2
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.
Protein type: Mitochondrial; EC 6.1.1.12; Translation; Ligase
Chromosomal Location of Human Ortholog: 1q25.1
Cellular Component: mitochondrial matrix; mitochondrion; nucleus
Molecular Function: aspartate-tRNA ligase activity; aspartate-tRNA(Asn) ligase activity; ATP binding; protein binding; protein homodimerization activity; tRNA binding
Biological Process: tRNA aminoacylation; tRNA aminoacylation for protein translation
Disease: Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Research Articles on DARS2
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Pathways associated with anti-DARS2 antibody
Diseases associated with anti-DARS2 antibody
Organs/Tissues associated with anti-DARS2 antibody
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