CYP4B1
Chr 1cytochrome P450 family 4 subfamily B member 1
Also known as: CYPIVB1, P-450HP
The protein is a cytochrome P450 monooxygenase that localizes to the endoplasmic reticulum and oxidizes steroids, fatty acids, and xenobiotics as part of an NADPH-dependent electron transport pathway. This gene is highly constrained against loss-of-function variants, but no human diseases have been definitively associated with CYP4B1 mutations despite the protein's metabolic functions. The inheritance pattern for any potential disorders would likely be autosomal recessive given the gene's constraint profile.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP4B1 · 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