FZR1
Chr 19ADfizzy and cell division cycle 20 related 1
Also known as: CDC20C, CDH1, DEE109, FZR, FZR2, HCDH, HCDH1
The FZR1 protein functions as a substrate-specific adapter for the anaphase promoting complex (APC/C), regulating cell cycle progression by controlling protein degradation during mitosis and DNA damage checkpoints. Mutations cause developmental and epileptic encephalopathy 109, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, reflecting its critical role in cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FZR1 · 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