FMO5

Chr 1

flavin containing dimethylaniline monoxygenase 5

Also known as: hBVMO1

Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADDisputedevidence questions this relationship
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.45
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — FMO5
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.000
Z-score -0.06
OE 1.01 (0.721.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.63Z-score
OE missense 1.10 (1.011.21)
319 obs / 288.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.721.45)
00.351.4
Missense OE?1.10 (1.011.21)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 22 / 21.7Missense obs/exp: 319 / 288.7Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FMO5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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