CYP4F12
Cytochrome P450 Family 4 Subfamily F Member 12
Gene Information Card
| Symbol | CYP4F12 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily F Member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 66002 ncbi.nlm.nih.gov/gene/66002 |
| Ensembl ID | ENSG00000186204 |
| UniProt ID | Q9HCS2 |
| OMIM ID | 614999 |
| HGNC ID | 26462 |
| Aliases | CYP4F12P, CYPIVF12 |
Description
CYP4F12 encodes a member of the cytochrome P450 superfamily of enzymes, specifically the CYP4F subfamily. The protein is a monooxygenase involved in the metabolism of endogenous fatty acids, including arachidonic acid and eicosanoids such as leukotriene B4. It catalyzes omega-hydroxylation of long-chain fatty acids and plays a role in the inactivation of pro-inflammatory mediators. The gene is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered arachidonic acid metabolism may affect blood pressure regulation via eicosanoid signaling. | Limited; association studies suggest potential link but not confirmed. |
| Inflammatory disorders | CYP4F12-mediated inactivation of leukotriene B4 may modulate inflammatory responses. | Inferred from biochemical function; direct clinical evidence lacking. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Small intestine | 5.1 | Low |
| Colon | 3.9 | Low |
| Lung | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| Caco-2 | 4.5 | Colorectal adenocarcinoma cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2072800 | SNP | 0.15 (global) | Missense; may alter enzyme activity |
| rs1065852 | SNP | 0.08 (global) | Synonymous; no known functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for CYP4F12.
View complete mutation data:
Gene Ontology (GO)
| • arachidonic acid monooxygenase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • acting on paired donors | • with incorporation or reduction of molecular oxygen |
| • omega-hydroxylase activity |
Pathways
• Arachidonic acid metabolism
• Biological oxidations
• Cytochrome P450 - arranged by substrate type
Protein Summary
CYP4F12 is a 524-amino acid microsomal cytochrome P450 enzyme that catalyzes the omega-hydroxylation of arachidonic acid and other long-chain fatty acids. It also inactivates leukotriene B4, a potent pro-inflammatory mediator. The protein is predominantly expressed in liver and kidney and is involved in the regulation of lipid signaling and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4F12 Knockout HEK293 Cell Line | EDJ-KQ12303 | Human | 66002 | Details Get a Quote |
| CYP4F12 Knockout A-549 Cell Line | EDJ-KQ42354 | Human | 66002 | Details Get a Quote |
| CYP4F12 Knockout HCT 116 Cell Line | EDJ-KQ42356 | Human | 66002 | Details Get a Quote |
| CYP4F12 Knockout HeLa Cell Line | EDJ-KQ42357 | Human | 66002 | Details Get a Quote |
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