BLVRA
Biliverdin Reductase A: Heme Metabolism and Antioxidant Defense
Gene Information Card
| Symbol | BLVRA |
|---|---|
| Full Name | Biliverdin Reductase A |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 644 ncbi.nlm.nih.gov/gene/644 |
| Ensembl ID | ENSG00000106633 |
| UniProt ID | P53004 |
| OMIM ID | 109750 |
| HGNC ID | 1062 |
| Aliases | BVR, BVR A, BLVR, BVRA |
Description
The BLVRA gene encodes biliverdin reductase A, a key enzyme in the heme catabolic pathway that catalyzes the reduction of biliverdin to bilirubin. This reaction is essential for bilirubin production and antioxidant defense. The enzyme also exhibits serine/threonine kinase activity and participates in cell signaling, including the regulation of oxidative stress and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperbilirubinemia, transient familial neonatal | Reduced BLVRA activity impairs biliverdin reduction, leading to elevated bilirubin levels in neonates. | PMID: 12384772 |
| Biliverdin reductase A deficiency | Loss-of-function mutations cause accumulation of biliverdin, resulting in green jaundice and potential neurotoxicity. | ClinVar: RCV000017580 |
| Alzheimer disease | Altered BLVRA expression and activity may contribute to oxidative stress and amyloid-beta toxicity in neurons. | PMID: 21832049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line, high expression |
| SH-SY5Y | 5.6 | Neuroblastoma line, moderate expression |
| HEK293 | 7.1 | Embryonic kidney line, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.671C>T (p.Pro224Leu) | Missense | Rare | Reduced enzymatic activity; associated with hyperbilirubinemia |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; severe deficiency |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Impaired biliverdin binding; decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish biliverdin reductase activity, leading to biliverdin accumulation and impaired antioxidant capacity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BLVRA.
Dominant Negative (DN)
No dominant-negative mutations have been described for BLVRA.
View complete mutation data：
Gene Ontology (GO)
| • Biliverdin reductase activity | • Serine/threonine kinase activity |
| • Heme catabolic process | • Cellular response to oxidative stress |
| • Cytoplasm | • Nucleus |
Pathways
• Heme degradation
• Bilirubin biosynthesis
• Oxidative stress response
Protein Summary
Biliverdin reductase A (BVR) is a 296-amino acid enzyme that reduces biliverdin to bilirubin using NADPH as a cofactor. It is a dual-function protein with both reductase and kinase activities, involved in heme metabolism, antioxidant defense, and cell signaling. BVR is widely expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLVRA Knockout HEK293 Cell Line | EDJ-KQ2860 | Human | 644 | Details Get a Quote |
| BLVRA Knockout A-549 Cell Line | EDJ-KQ23883 | Human | 644 | Details Get a Quote |
| BLVRA Knockout HCT 116 Cell Line | EDJ-KQ23884 | Human | 644 | Details Get a Quote |
| BLVRA Knockout HeLa Cell Line | EDJ-KQ23885 | Human | 644 | Details Get a Quote |
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