KMO

Chr 1

kynurenine 3-monooxygenase

Also known as: dJ317G22.1

NCBI Gene: 8564ENSG00000117009UniProt: O15229

This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
pellagra · ARNo Known Disease Relationshipno established gene-disease relationship
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — KMO
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 2.79
OE 0.43 (0.28–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.83Z-score
OE missense 0.68 (0.60–0.77)
180 obs / 263.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.28–0.70)
0≤0.351.4
Missense OE?0.68 (0.60–0.77)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 12 / 27.9Missense obs/exp: 180 / 263.4Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KMO · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients