CYP4V2

Chr 4

cytochrome P450 family 4 subfamily V member 2

Also known as: BCD, CYP4AH1

NCBI Gene: 285440 ENSG00000145476 UniProt: Q6ZWL3

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBietti crystalline corneoretinal dystrophy

Clinical highlights

Gene-disease validity (ClinGen)

Bietti crystalline corneoretinal dystrophy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — CYP4V2