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Literature summary for 1.14.13.148 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
Search for more literature for 1.14.13.148

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
flavin-containing monooxygenase
-
 Homo sapiens
FMO3 isoform Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FAD
-
 Homo sapiens
NADPH required Homo sapiens

General Information

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