CBR4: Carbonyl Reductase 4
Mitochondrial 3-ketoacyl-CoA reductase involved in fatty acid elongation and lipid metabolism
Gene Information Card
| Symbol | CBR4 |
|---|---|
| Full Name | Carbonyl Reductase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 84869 ncbi.nlm.nih.gov/gene/84869 |
| Ensembl ID | ENSG00000145431 |
| UniProt ID | Q8N4T8 |
| OMIM ID | 614511 |
| HGNC ID | 30700 |
| Aliases | SDR45C1, MGC13170 |
Description
CBR4 encodes carbonyl reductase 4, a member of the short-chain dehydrogenase/reductase (SDR) family. The protein localizes to mitochondria and functions as a 3-ketoacyl-CoA reductase in the mitochondrial fatty acid elongation system. It catalyzes the NADPH-dependent reduction of 3-ketoacyl-CoA intermediates, playing a role in lipid biosynthesis and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperinsulinemic hypoglycemia, familial, 8 | Defects in CBR4 impair mitochondrial fatty acid oxidation, leading to dysregulated insulin secretion | PMID: 28165339 |
| Mitochondrial complex I deficiency | CBR4 mutations may disrupt mitochondrial redox balance and energy production | PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Skeletal Muscle | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 8.5 | Embryonic kidney cells |
| K562 | 5.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.503G>A (p.Arg168His) | Missense | <0.01% | Reduced enzymatic activity; associated with hyperinsulinemic hypoglycemia |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish CBR4 enzymatic activity, impairing mitochondrial fatty acid elongation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • 3-ketoacyl-CoA reductase activity (GO:0003854) | • mitochondrion (GO:0005739) |
| • NADP binding (GO:0050661) | • fatty acid biosynthetic process (GO:0006633) |
| • oxidoreductase activity (GO:0016628) |
Pathways
• Mitochondrial fatty acid elongation (Reactome: R-HSA-1483248)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
Carbonyl reductase 4 is a 35 kDa mitochondrial enzyme with 319 amino acids. It contains a conserved SDR domain and uses NADPH as a cofactor to reduce 3-ketoacyl-CoA substrates. The protein is essential for mitochondrial fatty acid chain elongation and contributes to cellular lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBR4 Knockout HEK293 Cell Line | EDJ-KQ3974 | Human | 84869 | Details Get a Quote |
| CBR4 Knockout HCT 116 Cell Line | EDJ-KQ24916 | Human | 84869 | Details Get a Quote |
| CBR4 Knockout A-549 Cell Line | EDJ-KQ26258 | Human | 84869 | Details Get a Quote |
| CBR4 Knockout HeLa Cell Line | EDJ-KQ26260 | Human | 84869 | Details Get a Quote |
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