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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
10-formyltetrahydrofolate + L-methionyl-tRNAfMet | - |
Homo sapiens | tetrahydrofolate + N-formylmethionyl-tRNAfMet | - |
? |
Synonyms | Comment | Organism |
---|---|---|
MTFMT | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | enzyme mutations are associated with Leigh syndrome, early onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy | Homo sapiens |