Flavin-Containing Monooxygenase 3

Alternative Names

  • FMO3
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OMIM Number

136132

NCBI Gene ID

2328

Uniprot ID

P31513

Length

26,947 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Dimethylaniline monooxygenase [N-oxide-forming] 3

Molecular Mass

60033 Da

Amino Acid Count

532

Genomic Location

chr1:171,090,872-171,117,818

Gene Map Locus
1q24.3

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006894.6:c.855C>TLebanonNC_000001.11:g.171114034C>TBenignDrug ResponseBreast CancerNM_006894.6:c.855C>T; NP_001002294.1:p.Asn285=909530260078
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