CDC26
Chr 9cell division cycle 26
Also known as: ANAPC12, APC12, C9orf17
The protein is a component of the anaphase promoting complex/cyclosome (APC/C), an E3 ubiquitin ligase that controls cell cycle progression through mitosis and G1 phase by mediating ubiquitination and degradation of target proteins. Mutations in CDC26 cause autosomal recessive microcephaly and chorioretinopathy, a neurodevelopmental disorder affecting brain growth and retinal development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.85), consistent with its essential role in cell cycle regulation.
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 gain-of-function.
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
CDC26 · 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