FMO2

Chr 1

flavin containing dimethylaniline monoxygenase 2

Also known as: FMO1B1

NCBI Gene: 2327 ENSG00000094963 UniProt: P31512

This protein is a flavin-containing monooxygenase that catalyzes NADPH-dependent N-oxidation of primary alkylamines and metabolizes various xenobiotics including drugs and pesticides. The gene is not highly constrained against loss-of-function variants, and many human populations naturally carry a nonfunctional allele (FMO2*2A) with a premature stop codon that results in a truncated, catalytically inactive protein. No Mendelian diseases have been definitively associated with FMO2 mutations in pediatric populations.

ResearchSummary from RefSeq, UniProt

This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.06

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)