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Antibody detects endogenous levels of total 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).
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Protein Aliases: aspartate tRNA ligase 2, mitochondrial; Aspartate--tRNA ligase, mitochondrial; Aspartyl-tRNA synthetase; aspartyl-tRNA synthetase, mitochondrial; AspRS
Gene Aliases: 5830468K18Rik; ASPRS; DARS2; LBSL; MT-ASPRS; RGD1308286
UniProt ID: (Human) Q6PI48, (Rat) Q3KRD0, (Mouse) Q8BIP0
Entrez Gene ID: (Human) 55157, (Rat) 304919, (Mouse) 226539
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