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FMO3 flavin containing dimethylaniline monoxygenase 3

Gene ID: 2328, updated on 3-Apr-2024
Gene type: protein coding
Also known as: TMAU; FMOII; dJ127D3.1

Summary

Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
GeneReviews: Not available
TrimethylaminuriaSee labs

Genomic context

Location:
1q24.3
Sequence:
Chromosome: 1; NC_000001.11 (171090905..171117819)
Total number of exons:
10

Links

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