FMO3 Chromosome 1
Flavin containing dimethylaniline monoxygenase 3
Upload your DNA to see your personal genotypes for variants in FMO3.
What This Gene Does
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]
Gene Info
Gene Group
"Flavin containing monooxygenases|MicroRNA protein coding host genes|Flavoproteins"
Locus Type
gene with protein product
Location
1q24.3
Ensembl
ENSG00000007933
Associated Conditions (11)
Trimethylaminuria
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lymphoma
Nonpapillary renal cell carcinoma
FMO3-related disorder
Malignant tumor of esophagus
Colon adenocarcinoma
Inborn genetic diseases
FMO3 activity
decreased
See cases
Key Variants
RS11578281
Conflicting classifications of pathogenicity
Trimethylaminuria, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Lymphoma
Health Risk
RS141117096
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS141235954
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS144935285
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS186763441
Conflicting classifications of pathogenicity
Trimethylaminuria, FMO3-related disorder, Malignant tumor of esophagus
Health Risk
RS200985584
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS2066532
Conflicting classifications of pathogenicity
Trimethylaminuria, Colon adenocarcinoma, Trimethylaminuria
Health Risk
RS28363549
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS28363595
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS369396459
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS371276117
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
RS373775407
Conflicting classifications of pathogenicity
Trimethylaminuria, Trimethylaminuria
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11578281 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Lymphoma |
| RS141117096 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS141235954 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS144935285 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS186763441 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, FMO3-related disorder, Malignant tumor of esophagus |
| RS200985584 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS2066532 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Colon adenocarcinoma, Trimethylaminuria |
| RS28363549 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS28363595 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS369396459 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS371276117 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS373775407 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS376881697 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS535435928 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS72549324 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS72549331 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, FMO3-related disorder, Trimethylaminuria |
| RS769983049 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Trimethylaminuria, Inborn genetic diseases |
| RS771817026 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS934652609 | Health Risk | Conflicting classifications of pathogenicity | Trimethylaminuria, Trimethylaminuria |
| RS1185446006 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS1557946006 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS1655736013 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS183949390 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2526341854 | Health Risk | Likely pathogenic | — |
| RS2526362315 | Health Risk | Likely pathogenic | — |
| RS61757397 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS72549320 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS72549322 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS72549323 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS72549325 | Health Risk | Likely pathogenic | FMO3 activity, decreased, Trimethylaminuria |
| RS72549332 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS756477043 | Health Risk | Likely pathogenic | — |
| RS760256450 | Health Risk | Likely pathogenic | — |
| RS762600525 | Health Risk | Likely pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS765137570 | Health Risk | Likely pathogenic | — |
| RS774866097 | Health Risk | Likely pathogenic | — |
| RS778868969 | Health Risk | Likely pathogenic | — |
| RS779056077 | Health Risk | Likely pathogenic | — |
| RS886038576 | Health Risk | Likely pathogenic | — |
| RS1198164523 | Health Risk | Pathogenic | — |
| RS1201544644 | Health Risk | Pathogenic | — |
| RS1212744203 | Health Risk | Pathogenic | — |
| RS1331111339 | Health Risk | Pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS1464657042 | Health Risk | Pathogenic | — |
| RS1655517675 | Health Risk | Pathogenic | — |
| RS1655731489 | Health Risk | Pathogenic | — |
| RS1655882215 | Health Risk | Pathogenic | — |
| RS1656200306 | Health Risk | Pathogenic | Trimethylaminuria, Trimethylaminuria |
| RS2526256716 | Health Risk | Pathogenic | — |
| RS2526256749 | Health Risk | Pathogenic | — |