CYP4V2
Cytochrome P450 Family 4 Subfamily V Member 2
Gene Information Card
| Symbol | CYP4V2 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily V Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 285440 ncbi.nlm.nih.gov/gene/285440 |
| Ensembl ID | ENSG00000145476 |
| UniProt ID | Q6ZWL3 |
| OMIM ID | 608614 |
| HGNC ID | 23198 |
| Aliases | CYP4V2, CYP4AH1, FLJ14753, MGC133082 |
Description
CYP4V2 encodes a member of the cytochrome P450 superfamily of enzymes, specifically involved in omega-hydroxylation of medium- and long-chain fatty acids. The protein is localized to the endoplasmic reticulum and plays a critical role in lipid metabolism, particularly in the retina. Mutations in CYP4V2 are the primary cause of Bietti crystalline dystrophy, a rare autosomal recessive disorder characterized by progressive retinal degeneration and corneal crystals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bietti crystalline dystrophy | Loss-of-function mutations impair fatty acid hydroxylation, leading to lipid accumulation and retinal degeneration | OMIM #210370; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| HepG2 (liver) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.802-8_810del17insGC | Frameshift | Common in Asian populations | Loss of function |
| c.992A>C (p.His331Pro) | Missense | Rare | Loss of function |
| c.1190G>A (p.Arg397His) | Missense | Reported in multiple ethnicities | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CYP4V2 mutations result in loss of enzymatic activity, impairing fatty acid hydroxylation and causing Bietti crystalline dystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • omega-hydroxylase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • endoplasmic reticulum membrane |
Pathways
• Fatty acid omega-hydroxylation
• Cytochrome P450 metabolism of xenobiotics
Protein Summary
CYP4V2 is a 525-amino acid microsomal cytochrome P450 enzyme that catalyzes omega-hydroxylation of fatty acids, particularly arachidonic acid and docosahexaenoic acid. It is highly expressed in the retinal pigment epithelium and is essential for lipid homeostasis in the eye. Loss of function leads to Bietti crystalline dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4V2 Knockout HEK293 Cell Line | EDJ-KQ13076 | Human | 285440 | Details Get a Quote |
| CYP4V2 Knockout A-549 Cell Line | EDJ-KQ42358 | Human | 285440 | Details Get a Quote |
| CYP4V2 Knockout HCT 116 Cell Line | EDJ-KQ42359 | Human | 285440 | Details Get a Quote |
| CYP4V2 Knockout HeLa Cell Line | EDJ-KQ59515 | Human | 285440 | Details Get a Quote |
