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MARS2 produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3).
Gene Name: | Methionyl-tRNA synthetase 2, mitochondrial |
Synonyms: | MARS2, Methionyl-tRNA synthetase 2, MtMetRS, Methionine-tRNA ligase, Methionine--tRNA ligase 2, MetRS |
Target Sequences: | NM_138395 NP_612404.1 Q96GW9 |
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