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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BCO1
beta-carotene oxygenase 1
Chromosome 16 · 16q23.2
NCBI Gene: 53630Ensembl: ENSG00000135697.11HGNC: HGNC:13815UniProt: Q9HAY6
52PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
beta-carotene 15,15'-dioxygenase activityretinoid metabolic processcarotene catabolic processretinal metabolic processhereditary hypercarotenemia and vitamin A deficiencysialadenitisovarian neoplasmdiabetes mellitus
✦AI Summary

BCO1 (beta-carotene oxygenase 1) is the primary enzyme responsible for converting provitamin A carotenoids to vitamin A in mammals. The enzyme catalyzes the symmetric cleavage of β-carotene at the central 15,15' carbon-carbon double bond through a dioxygenase mechanism, producing two molecules of retinaldehyde (retinal) 1. BCO1 utilizes molecular oxygen to cleave not only β-carotene but also β-apocarotenals and lycopene, with the iron cofactor forming an octahedral coordination sphere with four conserved histidine residues 12. The enzyme is highly expressed in liver and intestine, with cellular localization in hepatocytes, hepatic stellate cells, portal endothelial cells, and mucosal epithelium, where it resides in the cytosol 3. BCO1 activity is crucial for whole-body carotenoid and vitamin A homeostasis and influences lipid metabolism and energy balance 1. Common genetic polymorphisms, such as rs6564851, significantly affect circulating β-carotene levels and carotenoid metabolism 4. BCO1 deficiency is associated with hypercarotenemia and vitamin A deficiency, and therapeutic overexpression in adipose tissue has shown promise for reducing obesity through local vitamin A production 5.

Sources cited
1
BCO1 catalyzes oxidative cleavage of β-carotene's 15,15' bond using dioxygenase mechanism to produce retinaldehyde
PMID: 32035229
2
BCO1 structure contains seven beta-sheets with iron cofactor coordinated by four conserved histidine residues
PMID: 36431912
3
BCO1 is expressed in hepatocytes, hepatic stellate cells, portal endothelial cells, and mucosal epithelium, localized in cytosol
PMID: 25575786
4
SNP rs6564851 in BCO1 gene affects circulating β-carotene levels and carotenoid intake in Japanese women
PMID: 28005968
5
BCO1 overexpression in adipose tissue reduces obesity through local vitamin A production from β-carotene
PMID: 36400405
Disease Associationsⓘ21
hereditary hypercarotenemia and vitamin A deficiencyOpen Targets
0.51Moderate
sialadenitisOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.19Weak
breast cancerOpen Targets
0.09Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.04Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
TMEM199-CDGOpen Targets
0.04Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.04Suggestive
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.03Suggestive
hypertriglyceridemia 2Open Targets
0.03Suggestive
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyOpen Targets
0.03Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
CCDC115-CDGOpen Targets
0.03Suggestive
atherosclerosisOpen Targets
0.03Suggestive
poisoningOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
Hypercarotenemia and vitamin A deficiency, autosomal dominantUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ISXProtein interaction99%RDH12Protein interaction96%ADH5Protein interaction95%ADH7Protein interaction95%RDH16Protein interaction95%HSD17B6Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Brain
60%
Lung
4%
Bone Marrow
3%
Heart
0%
Gene Interaction Network
Click a node to explore
BCO1ISXRDH12ADH5ADH7RDH16HSD17B6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9HAY6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.74–1.17]
RankingsWhere BCO1 stands among ~20K protein-coding genes
  • #8,533of 20,598
    Most Researched52
  • #12,245of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedBCO1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Enzymology of vertebrate carotenoid oxygenases.
PMID: 32035229
Biochim Biophys Acta Mol Cell Biol Lipids · 2020
1.00
2
Bioavailability and provitamin A activity of neurosporaxanthin in mice.
PMID: 37864015
Commun Biol · 2023
0.90
3
A Computer Simulation Insight into the Formation of Apocarotenoids: Study of the Carotenoid Oxygenases BCO1 and BCO2 and Their Interaction with Putative Substrates.
PMID: 36431912
Molecules · 2022
0.80
4
Common SNP rs6564851 in the BCO1 Gene Affects the Circulating Levels of β-Carotene and the Daily Intake of Carotenoids in Healthy Japanese Women.
PMID: 28005968
PLoS One · 2016
0.70
5
The conversion of β-carotene to vitamin A in adipocytes drives the anti-obesogenic effects of β-carotene in mice.
PMID: 36400405
Mol Metab · 2022
0.60