CYP4A11
Chr 1cytochrome P450 family 4 subfamily A member 11
Also known as: CP4Y, CYP4A2, CYP4AII, CYPIVA11
The protein is a cytochrome P450 monooxygenase that catalyzes omega-oxidation of medium-chain fatty acids, particularly lauric acid, and contributes to synthesis of 20-HETE, a signaling molecule that regulates blood pressure. CYP4A11 mutations cause autosomal recessive hypertension and associated cardiovascular complications. The gene shows low constraint against loss-of-function variants (high LOEUF score), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
109 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 85 | 2 | 0 | 88 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 1 | 89 | 10 | 2 | 102 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CYP4A11 · 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
External Resources
Links to major genomics databases and tools