BCO1: Beta-Carotene Oxygenase 1
Key enzyme in vitamin A metabolism and carotenoid cleavage
Gene Information Card
| Symbol | BCO1 |
|---|---|
| Full Name | Beta-Carotene Oxygenase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.2 |
| NCBI Gene ID | 53630 ncbi.nlm.nih.gov/gene/53630 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9HAY6 |
| OMIM ID | 605748 |
| HGNC ID | 1448 |
| Aliases | BCO, BCDO, BCDO1, BCMO1 |
Description
BCO1 (beta-carotene oxygenase 1) encodes a key enzyme in vitamin A metabolism that cleaves beta-carotene into retinaldehyde. This gene is primarily expressed in the intestine and liver, where it regulates provitamin A carotenoid conversion. Variants in BCO1 are associated with altered carotenoid metabolism and vitamin A status.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin A deficiency (susceptibility) | Reduced enzymatic conversion of beta-carotene to retinaldehyde | ClinVar |
| Hypercarotenemia | Impaired cleavage of dietary carotenoids leading to accumulation | OMIM |
| Age-related macular degeneration (AMD) | Altered vitamin A homeostasis in retinal pigment epithelium | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 15.2 | High |
| Liver | 8.7 | Medium |
| Pancreas | 6.3 | Medium |
| Adipose tissue | 4.1 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 12.1 | Enterocyte model |
| HepG2 (liver) | 9.4 | Hepatocyte model |
| ARPE-19 (retinal) | 2.8 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R267S | Missense | 0.5% (global) | Reduced catalytic activity |
| T170M | Missense | 0.2% (European) | Impaired substrate binding |
| A379V | Missense | 0.1% (Asian) | Decreased enzyme stability |
Mutation functional classification
Loss of Function (LOF)
R267S and T170M reduce beta-carotene cleavage activity, leading to lower retinaldehyde production.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • beta-carotene 15 | • 15'-dioxygenase activity |
| • carotenoid dioxygenase activity | • retinaldehyde biosynthetic process |
| • vitamin A metabolic process | • response to retinoic acid |
Pathways
• Vitamin A and carotenoid metabolism (Reactome: R-HSA-975634)
• Retinoid metabolism and transport (KEGG: hsa00830)
Protein Summary
Beta-carotene oxygenase 1 (BCO1) is a cytosolic enzyme that catalyzes the symmetric cleavage of beta-carotene into two molecules of retinaldehyde, the precursor of retinol (vitamin A) and retinoic acid. The protein contains a conserved carotenoid oxygenase domain and requires iron as a cofactor. BCO1 is highly expressed in intestinal enterocytes and hepatocytes, playing a central role in dietary vitamin A acquisition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCO1 Knockout HEK293 Cell Line | EDJ-KQ11349 | Human | 53630 | Details Get a Quote |
| BCO1 Knockout A-549 Cell Line | EDJ-KQ39521 | Human | 53630 | Details Get a Quote |
| BCO1 Knockout HeLa Cell Line | EDJ-KQ56375 | Human | 53630 | Details Get a Quote |
| BCO1 Knockout HCT 116 Cell Line | EDJ-KQ73311 | Human | 53630 | Details Get a Quote |
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