YDL033C

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Systematic name YDL033C
Gene name SLM3
Aliases MTO2, MTU1
Feature type ORF, Verified
Coordinates Chr IV:393912..392659
Primary SGDID S000002191


Description of YDL033C: tRNA-specific 2-thiouridylase, responsible for 2-thiolation of the wobble base of mitochondrial tRNAs; human ortholog is implicated in myoclonus epilepsy associated with ragged red fibers (MERRF)[1][2]




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References

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  1. Umeda N, et al. (2005) Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. J Biol Chem 280(2):1613-24 SGD PMID 15509579
  2. Yan Q, et al. (2005) Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA. J Biol Chem 280(32):29151-7 SGD PMID 15944150

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