CYP4F3
Cytochrome P450 Family 4 Subfamily F Member 3
Gene Information Card
| Symbol | CYP4F3 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily F Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 4051 ncbi.nlm.nih.gov/gene/4051 |
| Ensembl ID | ENSG00000186526 |
| UniProt ID | Q08477 |
| OMIM ID | 601270 |
| HGNC ID | 2646 |
| Aliases | CYP4F3A, CYP4F3B, LTB4H, LTB4 omega-hydroxylase |
Description
CYP4F3 encodes a member of the cytochrome P450 family 4 subfamily F. This enzyme catalyzes the omega-hydroxylation of leukotriene B4 (LTB4), a potent pro-inflammatory mediator, thereby inactivating it. The gene produces two transcript variants (CYP4F3A and CYP4F3B) with distinct substrate specificities: CYP4F3A primarily hydroxylates LTB4, while CYP4F3B acts on long-chain fatty acids. CYP4F3 is expressed in neutrophils, liver, and kidney, and plays a critical role in the resolution of inflammation and fatty acid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukotriene B4 metabolism disorders | Deficiency in LTB4 omega-hydroxylation leads to impaired inactivation of LTB4, contributing to excessive inflammation | ClinVar, OMIM |
| Crohn's disease | Polymorphisms in CYP4F3 may alter LTB4 clearance, influencing intestinal inflammation | NCBI Gene, PubMed |
| Asthma | Variants affecting LTB4 degradation may modulate airway inflammation | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Bone marrow | 6.7 | Low |
| Lung | 4.1 | Low |
| Small intestine | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.2 | High expression after differentiation |
| HepG2 (hepatocellular carcinoma) | 10.1 | Moderate expression |
| A549 (lung carcinoma) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1297C>T (p.Arg433Trp) | missense | 0.01% (gnomAD) | Reduced enzyme activity; associated with altered LTB4 metabolism |
| c.1004G>A (p.Arg335Gln) | missense | 0.005% (gnomAD) | Potential loss of function; reported in ClinVar |
| c.1528G>A (p.Gly510Ser) | missense | 0.002% (gnomAD) | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg433Trp reduce catalytic activity toward LTB4, impairing inflammatory resolution.
Gain of Function (GOF)
No gain-of-function mutations reported in CYP4F3.
Dominant Negative (DN)
No dominant-negative mutations reported in CYP4F3.
View complete mutation data：
Gene Ontology (GO)
| • arachidonic acid omega-hydroxylase activity (GO:0008391) | • leukotriene-B4 20-monooxygenase activity (GO:0018659) |
| • heme binding (GO:0020037) | • iron ion binding (GO:0005506) |
| • with incorporation or reduction of molecular oxygen (GO:0016705) | • omega-hydroxylase P450 pathway (GO:0019373) |
| • fatty acid omega-oxidation (GO:0019395) | • inflammatory response (GO:0006954) |
Pathways
• Leukotriene B4 metabolism (Reactome: R-HSA-2142691)
• Biological oxidations (Reactome: R-HSA-211859)
• Fatty acid metabolism (KEGG: hsa00071)
• Arachidonic acid metabolism (KEGG: hsa00590)
Protein Summary
CYP4F3 is a microsomal cytochrome P450 enzyme (UniProt Q08477) that catalyzes the omega-hydroxylation of leukotriene B4 (LTB4) and long-chain fatty acids. The protein contains a heme-binding domain and a conserved P450 cysteine pocket. Two isoforms exist: CYP4F3A (predominantly in neutrophils) and CYP4F3B (in liver and kidney). The enzyme is essential for LTB4 inactivation, thereby controlling neutrophil chemotaxis and inflammation. Defects in CYP4F3 are linked to inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4F3 Knockout HEK293 Cell Line | EDJ-KQ5148 | Human | 4051 | Details Get a Quote |
| CYP4F3 Knockout A-549 Cell Line | EDJ-KQ28119 | Human | 4051 | Details Get a Quote |
| CYP4F3 Knockout HeLa Cell Line | EDJ-KQ53810 | Human | 4051 | Details Get a Quote |
| CYP4F3 Knockout HCT 116 Cell Line | EDJ-KQ70772 | Human | 4051 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
