CDC20
Chr 1ARcell division cycle 20
Also known as: CDC20A, OOMD14, OZEMA14, bA276H19.3, p55CDC
CDC20 encodes a substrate-specific adapter protein for the anaphase promoting complex that targets specific proteins for degradation during the metaphase/anaphase transition of the cell cycle and regulates synaptic vesicle clustering in neurons. Biallelic mutations cause autosomal recessive oocyte/zygote/embryo maturation arrest, resulting in female infertility due to early developmental arrest. The gene shows low constraint to loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
CDC20 · 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