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The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8.
Gene Name: | Alanyl-tRNA Synthetase 2, mitochondrial |
Synonyms: | AARS2, AARSL, AlaRS, Alanyl-tRNA synthetase like, BA444E17.1, COXPD8, Alanyl-tRNA synthetase, MT-ALARS, KIAA1270, MTALARS |
Target Sequences: | NM_020745 NP_065796.1 |
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