CYP4V2

Chr 4AR

cytochrome P450 family 4 subfamily V member 2

Also known as: BCD, CYP4AH1

NCBI Gene: 285440 ENSG00000145476 UniProt: Q6ZWL3 OMIM: 608614

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.031 OMIM phenotype

Clinical Summary— CYP4V2

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Gene-Disease Validity (ClinGen)

Bietti crystalline corneoretinal dystrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

5 active or recruiting trials — potential therapeutic options may be available

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.03LOEUF

pLI 0.000

Z-score 1.42

OE 0.70 (0.49–1.03)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.12Z-score

OE missense 1.02 (0.93–1.12)

305 obs / 299.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.70 (0.49–1.03)

0≤0.351.4

Missense OE?1.02 (0.93–1.12)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 19 / 27.0Missense obs/exp: 305 / 299.1Syn Z: 0.92

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveCYP4V2-related Bietti crystalline corneoretinal dystrophyLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.75top 25%

GOF

0.6443th %ile

LOF

0.2873th %ile

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.