CYP4Z1
Chr 1cytochrome P450 family 4 subfamily Z member 1
Also known as: CYP4A20
This enzyme catalyzes the hydroxylation and epoxidation of fatty acids, particularly lauric and myristic acids, and produces epoxyeicosatrienoic acid from arachidonic acid. CYP4Z1 mutations have not been established as a cause of human disease, and no clear inheritance pattern or clinical phenotype has been defined for this gene. The gene shows tolerance to loss-of-function variants (LOEUF 1.464), suggesting that complete loss of this enzyme may not cause severe developmental phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP4Z1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools