CYP20A1
Chr 2cytochrome P450 family 20 subfamily A member 1
Also known as: CYP-M
The protein is a member of the cytochrome P450 superfamily but lacks key conserved motifs including part of the heme binding site and the I-helix motif, suggesting it may have atypical enzymatic properties compared to other P450 enzymes. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating it is under strong selective pressure and likely essential for normal function. However, no definitive human disease associations have been established for CYP20A1 mutations despite its apparent functional importance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP20A1 · 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