Difference between revisions of "YHR091C"
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| − | '''Description of YHR091C:''' Mitochondrial arginyl-tRNA synthetase<ref name='S000047144'>Tzagoloff A and Shtanko A (1995) Mitochondrial and cytoplasmic isoleucyl-, glutamyl- and arginyl-tRNA synthetases of yeast are encoded by separate genes. Eur J Biochem 230(2):582-6 | + | '''Description of YHR091C:''' Mitochondrial arginyl-tRNA synthetase; mutations in human ortholog are associated with pontocerebellar hypoplasia type 6<ref name='S000149458'>Cassandrini D, et al. (2012) Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis () {{SGDpaper|S000149458}} PMID 22569581</ref><ref name='S000047144'>Tzagoloff A and Shtanko A (1995) Mitochondrial and cytoplasmic isoleucyl-, glutamyl- and arginyl-tRNA synthetases of yeast are encoded by separate genes. Eur J Biochem 230(2):582-6 |
{{SGDpaper|S000047144}} PMID 7607232</ref> | {{SGDpaper|S000047144}} PMID 7607232</ref> | ||
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Latest revision as of 14:05, 5 June 2012
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| Systematic name | YHR091C |
| Gene name | MSR1 |
| Aliases | |
| Feature type | ORF, Verified |
| Coordinates | Chr VIII:286770..284839 |
| Primary SGDID | S000001133 |
Description of YHR091C: Mitochondrial arginyl-tRNA synthetase; mutations in human ortholog are associated with pontocerebellar hypoplasia type 6[1][2]
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References
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- ↑ Cassandrini D, et al. (2012) Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis () SGD PMID 22569581
- ↑ Tzagoloff A and Shtanko A (1995) Mitochondrial and cytoplasmic isoleucyl-, glutamyl- and arginyl-tRNA synthetases of yeast are encoded by separate genes. Eur J Biochem 230(2):582-6 SGD PMID 7607232
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