BLVRB: Biliverdin Reductase B
Key enzyme in heme degradation and cellular redox regulation
Gene Information Card
| Symbol | BLVRB |
|---|---|
| Full Name | Biliverdin Reductase B |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 645 ncbi.nlm.nih.gov/gene/645 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P30043 |
| OMIM ID | 600941 |
| HGNC ID | 1063 |
| Aliases | FLR, BVRB, BVR-B, biliverdin reductase B (flavin reductase (NADPH)) |
Description
BLVRB encodes biliverdin reductase B, an enzyme that catalyzes the reduction of biliverdin to bilirubin using NADPH as a cofactor. It also exhibits flavin reductase activity, reducing riboflavin and other flavins. The enzyme plays a role in heme catabolism and cellular antioxidant defense by generating bilirubin, a potent antioxidant. BLVRB is widely expressed and is involved in redox homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperbilirubinemia | Deficiency in BLVRB may impair biliverdin reduction, leading to accumulation of biliverdin and altered bilirubin levels. | ClinVar, OMIM |
| Oxidative stress-related disorders | Reduced BLVRB activity decreases bilirubin production, compromising antioxidant capacity. | NCBI Gene, PubMed |
| Cancer (colorectal, breast) | Altered BLVRB expression affects redox balance and may influence tumor progression. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.2 | Low |
| Lung | 5.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| MCF7 | 7.2 | Breast cancer cell line |
| A549 | 6.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.286G>A (p.Gly96Ser) | Missense | <0.01% | Reduced enzyme activity |
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Gly96Ser reduce or abolish enzymatic activity, impairing biliverdin reduction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • biliverdin reductase activity (GO:0003854) | • ferric-chelate reductase activity (GO:0004324) |
| • oxidoreductase activity (GO:0016491) | • identical protein binding (GO:0042802) |
| • heme oxidation (GO:0006788) | • heme catabolic process (GO:0042167) |
| • cytosol (GO:0005829) |
Pathways
• Heme degradation (Reactome: R-HSA-189483)
• Bilirubin metabolism (KEGG: hsa00860)
• Porphyrin and chlorophyll metabolism (KEGG: hsa00860)
Protein Summary
Biliverdin reductase B (BLVRB) is a 206-amino acid cytosolic enzyme that reduces biliverdin to bilirubin using NADPH. It also reduces flavins and acts as a ferric-chelate reductase. The protein is a monomer with a flavin-binding domain. It is essential for heme catabolism and contributes to cellular antioxidant defense by generating bilirubin. BLVRB is expressed in many tissues, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLVRB Knockout HEK293 Cell Line | EDJ-KQ4136 | Human | 645 | Details Get a Quote |
| BLVRB Knockout A-549 Cell Line | EDJ-KQ26561 | Human | 645 | Details Get a Quote |
| BLVRB Knockout HCT 116 Cell Line | EDJ-KQ26562 | Human | 645 | Details Get a Quote |
| BLVRB Knockout HeLa Cell Line | EDJ-KQ26563 | Human | 645 | Details Get a Quote |
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