|Other Names||Aspartate--tRNA ligase, mitochondrial, Aspartyl-tRNA synthetase, AspRS, DARS2|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP7836b was selected from the C-term region of humanRS2. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Cellular Location||Mitochondrion matrix|
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Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis. Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]. 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.
Scheper,G.C., Nat. Genet. 39 (4), 534-539 (2007)Bonnefond,L., Biochemistry 44 (12), 4805-4816 (2005)
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