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Literature summary for 2.1.2.9 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
Search for more literature for 2.1.2.9

Protein Variants

Protein Variants Comment Organism
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
R181S the mutation causes severe Leigh syndrome Homo sapiens

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
MTFMT
-
 Homo sapiens

General Information

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