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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).
Gene Name: | aspartyl-tRNA synthetase 2, mitochondrial |
Synonyms: | DARS2, Aspartyl-tRNA synthetase, MT-ASPRS, RP3-383J4.2, AspRS, ASPRS. LBSL, LBSL |
Target Sequences: | NM_018122 NP_060592.2 Q6PI48 |
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