FMO4

Chr 1

flavin containing dimethylaniline monoxygenase 4

Also known as: FMO2

NCBI Gene: 2329 ENSG00000076258 UniProt: P31512 OMIM: 136131

FMO4 encodes flavin-containing monooxygenase 4, an NADPH-dependent enzyme that catalyzes the oxidative metabolism of xenobiotics including drugs and pesticides. This gene has extremely low constraint against loss-of-function variants (pLI ~0, LOEUF 1.18), and no human diseases have been definitively associated with FMO4 mutations to date. The related gene FMO3 causes trimethylaminuria (fish odor syndrome) through impaired metabolism of trimethylamine, but FMO4's specific role in human disease remains unclear.

OMIM ResearchSummary from RefSeq, UniProt

Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted