Gene: [01q2/FMO3] flavin containing monooxygenase 3 (adult liver); trimethylaminuria (fish-odor syndrome; MIM:602079);
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FUN |
[1] Systematic name: N,N-dimethylaniline,NADPH:oxygen oxidoreductase
(N-oxide forming).
[2] The reaction catalyzed: N,N-dimethylaniline + NADPH + O(2) = = N,N-dimethylaniline N-oxide + NADP(+) + H(2)O. [3] Cofactor: FAD." |
|
PAT |
Trimethylaminuria, otherwise known as fish odor syndrome, is an inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs. The causative mutation resides in FMO3 (Akerman-1997). Mutant FMO3 cDNA for this mutation demonstrated loss of substrate activity for TMA and tyramine." |
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REF |
PAT,MUT "Akerman BR &: AJHG, 61, (Suppl), 1876-1876, 1997 REV,PAT,TER "Mitchell SC: Perspect Biol Med, 39, 514-526, 1996 PRO,LOC,FAG "Shephard EA &: Genomics, 16, 85-89, 1993 |
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KEY |
xen, mtbd |
|
CLA |
coding, basic |
|
LOC |
01 q23-25 |
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MIM |
MIM: 136132 |
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EZN |
ENZYME: 1.14.13.8 |
