CYP4V2
Chr 4cytochrome P450 family 4 subfamily V member 2
Also known as: BCD, CYP4AH1
CYP4V2 encodes a cytochrome P450 monooxygenase that catalyzes omega-hydroxylation of polyunsaturated fatty acids including docosahexaenoate (DHA) and eicosapentaenoate (EPA), contributing to retinal fatty acid homeostasis. Mutations cause Bietti crystalline corneoretinal dystrophy, an autosomal recessive condition affecting the eyes with characteristic crystalline deposits in the cornea and retina. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: TypeError: fetch failed
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP4V2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Safety and Efficacy of ZVS101e in Patients With Bietti 's Crystalline Dystrophy
ACTIVE NOT RECRUITINGSafety and Tolerability of VGR-R01 for Patients With Bietti Crystalline Dystrophy
ACTIVE NOT RECRUITINGSafety and Efficacy Study of NGGT001 in Bietti Crystalline Corneoretinal Dystrophy Subjects
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools