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Literature summary extracted from

  • Dobson, C.M.; Gradinger, A.; Longo, N.; Wu, X.; Leclerc, D.; Lerner-Ellis, J.; Lemieux, M.; Belair, C.; Watkins, D.; Rosenblatt, D.S.; Gravel, R.A.
    Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria (2006), Mol. Genet. Metab., 88, 327-333.
    View publication on PubMed

Application

EC Number Application Comment Organism
5.1.99.1 medicine point mutation in the methylmalonyl-CoA 2-epimerase gene (C139T) and an insertion polymorphism 41-160-161insT causes methylmalonic aciduria in patients, inhibition of the enzyme by siRNAs in HeLa cells reduces the synthesis of macromolecules Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
5.1.99.1 Homo sapiens Q96PE7
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Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.1.99.1 (R)-methylmalonyl-CoA
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Homo sapiens (S)-methylmalonyl-CoA
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Synonyms

EC Number Synonyms Comment Organism
5.1.99.1 MCE
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Homo sapiens
5.1.99.1 methylmalonyl-CoA 2-epimerase
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Homo sapiens
5.1.99.1 methylmalonyl-CoA 2-racemase
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Homo sapiens
5.1.99.1 methylmalonyl-CoA epimerase
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Homo sapiens