Literature summary 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.

Localization

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

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
2.1.2.9	10-formyltetrahydrofolate + L-methionyl-tRNAfMet	Homo sapiens	-	tetrahydrofolate + N-formylmethionyl-tRNAfMet	-	?

Organism

EC Number	Organism	UniProt	Comment	Textmining
2.1.2.9	Homo sapiens	-	-	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
2.1.2.9	10-formyltetrahydrofolate + L-methionyl-tRNAfMet	-	Homo sapiens	tetrahydrofolate + N-formylmethionyl-tRNAfMet	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
2.1.2.9	mitochondrial methionyl-tRNA formyltransferase	-	Homo sapiens
2.1.2.9	MTFMT	-	Homo sapiens

General Information

EC Number	General Information	Comment	Organism
2.1.2.9	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
2.1.2.9	physiological function	MTFMT is critical for efficient human mitochondrial translation	Homo sapiens

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Release 2023.1 (January 2023)