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Literature summary extracted from

  • La Piana, R.; Weraarpachai, W.; Ospina, L.H.; Tetreault, M.; Majewski, J.; Majewski, J.; Bruce Pike, G.; Decarie, J.C.; Tampieri, D.; Brais, B.; Shoubridge, E.A.
    Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype (2017), Neurogenetics, 18, 97-103 .
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.1.2.9 A59V the mutation causing substantially decreased enzyme activity is associated with selective vulnerability of the visual pathway and a mild neurological phenotype of Leigh syndrome. The missense mutation destabilizes the protein Homo sapiens
2.1.2.9 R181S the mutation causes severe Leigh syndrome Homo sapiens

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 MTFMT
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.1.2.9 malfunction enzyme mutations are associated with Leigh syndrome, early onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy Homo sapiens