Difference between revisions of "YDL033C"
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| − | '''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)<ref name=' | + | '''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)<ref name='S000080941'>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 {{SGDpaper|S000080941}} PMID 15509579</ref><ref name='S000082099'>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 |
| − | {{SGDpaper| | + | {{SGDpaper|S000082099}} PMID 15944150</ref> |
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Revision as of 04:15, 19 December 2008
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| Systematic name | YDL033C |
| Gene name | SLM3 |
| Aliases | MTO2, MTU1 |
| Feature type | ORF, Verified |
| Coordinates | Chr IV:393910..392657 |
| 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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- ↑ 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
- ↑ 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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