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Literature summary for 2.1.2.9 extracted from

  • Tucker, E.J.; Hershman, S.G.; Koehrer, C.; Belcher-Timme, C.A.; Patel, J.; Goldberger, O.A.; Christodoulou, J.; Silberstein, J.M.; McKenzie, M.; Ryan, M.T.; Compton, A.G.; Jaffe, J.D.; Carr, S.A.; Calvo, S.E.; RajBhandary, U.L.; Thorburn, D.R.; Mootha, V.K.
    Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation (2011), Cell Metab., 14, 428-434.
    View publication on PubMedView publication on EuropePMC

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
10-formyltetrahydrofolate + L-methionyl-tRNAfMet Homo sapiens
-
tetrahydrofolate + N-formylmethionyl-tRNAfMet
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
10-formyltetrahydrofolate + L-methionyl-tRNAfMet
-
Homo sapiens tetrahydrofolate + N-formylmethionyl-tRNAfMet
-
?

Synonyms

Synonyms Comment Organism
mitochondrial methionyl-tRNA formyltransferase
-
Homo sapiens
MTFMT
-
Homo sapiens

General Information

General Information Comment Organism
malfunction heterozygous mutations in MTFMT occur in two unrelated children presenting with Leigh syndrome and combined OXPHOS deficiency. The patient fibroblasts have dramatically reduced fMet-tRNAMet levels and an abnormal formylation profile of mitochondrially translated COX1, and patient fibroblasts exhibit severe defects in mitochondrial translation that can be rescued by exogenous expression of MTFMT. Mitochondrial tRNAMet pools are abnormal in patient fibroblasts, phenotypes, overview Homo sapiens
physiological function MTFMT is critical for efficient human mitochondrial translation Homo sapiens