BCO1

Chr 16

beta-carotene oxygenase 1

Also known as: BCDO, BCDO1, BCMO, BCMO1, BCO

NCBI Gene: 53630ENSG00000135697UniProt: Q9HAY6

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypercarotenemia and vitamin A deficiency, autosomal dominant
1
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
LOF
Mechanism· predicted
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?
1.18LOEUF
pLI 0.000
Z-score 0.87
OE 0.81 (0.57–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.90Z-score
OE missense 1.15 (1.05–1.25)
346 obs / 302.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.57–1.18)
0≤0.351.4
Missense OE?1.15 (1.05–1.25)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 20 / 24.6Missense obs/exp: 346 / 302.1Syn Z: -1.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCO1 · 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