BCO2: Beta-Carotene Oxygenase 2
Key enzyme in carotenoid metabolism and potential biomarker for oxidative stress-related diseases
Gene Information Card
| Symbol | BCO2 |
|---|---|
| Full Name | Beta-carotene oxygenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 83875 ncbi.nlm.nih.gov/gene/83875 |
| Ensembl ID | ENSG00000166086 |
| UniProt ID | Q9BYV7 |
| OMIM ID | 611741 |
| HGNC ID | 18503 |
| Aliases | BCO2, BCDO2, BETA-CAROTENE 9',10'-DIOXYGENASE |
Description
BCO2 (beta-carotene oxygenase 2) encodes a mitochondrial enzyme that catalyzes the asymmetric cleavage of beta-carotene and other carotenoids at the 9',10' double bond, producing apocarotenoids. This enzyme plays a critical role in carotenoid metabolism, vitamin A synthesis, and protection against oxidative stress. BCO2 is expressed in various tissues including liver, adipose tissue, and retina, and its activity influences carotenoid accumulation and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carotenoid metabolism disorder | Loss-of-function mutations impair carotenoid cleavage, leading to accumulation of carotenoids in tissues | PMID: 21763490 |
| Obesity and metabolic syndrome | BCO2 deficiency alters carotenoid homeostasis and lipid metabolism, contributing to adipose tissue dysfunction | PMID: 25548152 |
| Age-related macular degeneration | Reduced BCO2 activity may affect retinal carotenoid levels and oxidative stress protection | PMID: 23940091 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Medium |
| Retina | 15.2 | High |
| Small intestine | 6.7 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte cell line |
| ARPE-19 | 14.8 | Retinal pigment epithelial cells |
| 3T3-L1 | 7.5 | Adipocyte precursor cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.400C>T (p.Arg134*) | Nonsense | Rare | Loss of function |
| c.676G>A (p.Gly226Arg) | Missense | Rare | Reduced enzyme activity |
| c.1003C>T (p.Arg335Trp) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or complete loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carotenoid metabolism (Reactome: R-HSA-2426168)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
• Retinoid metabolism and transport (WikiPathways: WP2841)
Protein Summary
Beta-carotene oxygenase 2 (BCO2) is a 579-amino acid mitochondrial enzyme that belongs to the carotenoid oxygenase family. It contains a conserved RPE65 domain and requires iron as a cofactor. BCO2 specifically cleaves carotenoids at the 9',10' double bond, generating apocarotenoids that serve as signaling molecules and precursors for retinoids. The enzyme is widely expressed, with highest levels in retina, liver, and adipose tissue. BCO2 deficiency leads to carotenoid accumulation and has been linked to metabolic disorders and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCO2 Knockout HEK293 Cell Line | EDJ-KQ9915 | Human | 83875 | Details Get a Quote |
| BCO2 Knockout A-549 Cell Line | EDJ-KQ36815 | Human | 83875 | Details Get a Quote |
| BCO2 Knockout HCT 116 Cell Line | EDJ-KQ36816 | Human | 83875 | Details Get a Quote |
| BCO2 Knockout HeLa Cell Line | EDJ-KQ57489 | Human | 83875 | Details Get a Quote |
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