CYP4V2
Chr 4ARcytochrome P450 family 4 subfamily V member 2
Also known as: BCD, CYP4AH1
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Safety and Efficacy Study of NGGT001 in Bietti Crystalline Corneoretinal Dystrophy Subjects
ACTIVE NOT RECRUITINGSafety and Tolerability of VGR-R01 for Patients With Bietti Crystalline Dystrophy
ACTIVE NOT RECRUITINGSafety and Efficacy of ZVS101e in Patients With Bietti 's Crystalline Dystrophy
ACTIVE NOT RECRUITINGA Safety Study of Contralateral Eye Dosing of VGR-R01 in Participants With Bietti's Crystalline Dystrophy (BCD)
NOT YET RECRUITINGZVS101e in Patients With Bietti's Crystalline Dystrophy
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools