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Literature summary extracted from

  • Treacy, E.; Akerman, B.; Chow, L.; Youil, R.; Bibeau, C.; Lin, J.; Bruce, A.; Knight, M.; Danks, D.; Cashman, J.; Forrest, S.
    Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication (1998), Hum. Mol. Genet., 7, 839-845.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.14.13.148 E158K the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 E305X the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 E308G the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 M66I the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 N245N the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 P153L the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 P153L/E305X the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 S310S the mutation is associated with trimethylaminuria Homo sapiens
1.14.13.148 V257M the mutation is associated with trimethylaminuria Homo sapiens

Organism

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.13.148 10-[(N,N-dimethylaminopentyl)]-2-(trifluoromethylphenothiazine) + NADPH + H+ + O2 functional substrate Homo sapiens ?
-
 ?
1.14.13.148 N,N,N-trimethylamine + NADPH + H+ + O2
-
 Homo sapiens N,N,N-trimethylamine N-oxide + NADP+ + H2O
-
 ?
1.14.13.148 tyramine + NADPH + H+ + O2
-
 Homo sapiens 4-[(2E)-2-(hydroxyimino)ethyl]phenol + NADP+ + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.13.148 flavin-containing monooxygenase
-
 Homo sapiens
1.14.13.148 FMO3 isoform Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.13.148 FAD
-
 Homo sapiens
1.14.13.148 NADPH required Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.13.148 malfunction mutations of the flavin-containing monooxygenase gene FMO3 cause trimethylaminuria Homo sapiens