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Literature summary 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

Application

EC Number Application Comment Organism
2.1.1.B123 medicine mutation G189R identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) are detected in muscle homogenate. Symptoms are similar to mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. A yeast MRM2 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 of the yeast knockout mutant with the human mutant Mrm2 fails to rescue the respiratory phenotype, which is instead completely rescued by expressing the wild-type allele Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.1.1.B123
-
 Homo sapiens
2.1.1.168
-
 Saccharomyces cerevisiae

Protein Variants

EC Number Protein Variants Comment Organism
2.1.1.B123 G189R mutation identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes Homo sapiens
2.1.1.168 G259R complementation of a knockout strain with mutant G259R gene fails to rescue the respiratory phenotype Saccharomyces cerevisiae

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.1.B123 S-adenosyl-L-methionine + uridine1369 in 16S rRNA Homo sapiens
-
 S-adenosyl-L-homocysteine + 2'-O-methyluridine1369 in 16S rRNA
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.1.1.B123 Homo sapiens Q9UI43
-
-
2.1.1.168 Saccharomyces cerevisiae P53123
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.1.B123 S-adenosyl-L-methionine + uridine1369 in 16S rRNA
-
 Homo sapiens S-adenosyl-L-homocysteine + 2'-O-methyluridine1369 in 16S rRNA
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.1.B123 MRM2
-
 Homo sapiens
2.1.1.168 MRM2
-
 Saccharomyces cerevisiae

General Information

EC Number General Information Comment Organism
2.1.1.168 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