BCO1
Chr 16ADbeta-carotene oxygenase 1
Also known as: BCDO, BCDO1, BCMO, BCMO1, BCO
The encoded enzyme catalyzes the symmetric cleavage of beta-carotene into retinal, serving as a key step in vitamin A metabolism. Mutations cause hypercarotenemia and vitamin A deficiency with autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants, suggesting tolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The Badonyi & Marsh model scores gain-of-function highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools