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Literature summary for 2.1.1.B123 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
Search for more literature for 2.1.1.B123

Application

Application Comment Organism
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)

Cloned (Comment) Organism
-
 Homo sapiens

Protein Variants

Protein Variants Comment Organism
G189R mutation identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UI43
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
MRM2
-
 Homo sapiens