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Literature summary for 2.1.1.168 extracted from

  • Garone, C.; DSouza, A.R.; Dallabona, C.; Lodi, T.; Rebelo-Guiomar, P.; Rorbach, J.; Donati, M.A.; Procopio, E.; Montomoli, M.; Guerrini, R.; Zeviani, M.; Calvo, S.E.; Mootha, V.K.; DiMauro, S.; Ferrero, I.; Minczuk, M.
    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (2017), Hum. Mol. Genet., 26, 4257-4266 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
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Saccharomyces cerevisiae

Protein Variants

Protein Variants Comment Organism
G259R complementation of a knockout strain with mutant G259R gene fails to rescue the respiratory phenotype Saccharomyces cerevisiae

Organism

Organism UniProt Comment Textmining
Saccharomyces cerevisiae P53123
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Synonyms

Synonyms Comment Organism
MRM2
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Saccharomyces cerevisiae

General Information

General Information Comment Organism
physiological function a knockout mutant shows a defect in respiration and the reduction of the 2'-O-methylmodification at position U2791 in the yeast mitochondrial 21S rRNA. Complementation with the Mrm2 allele carrying the yeast mutation G259R which is equivalent to G189R in the human gene fails to rescue the respiratory phenotype, which is instead completely rescued by expressing the wild-type allele Saccharomyces cerevisiae