CAND1
Chr 12cullin associated and neddylation dissociated 1
Also known as: TIP120, TIP120A
The protein encoded by this gene is an essential regulator that promotes the exchange of F-box subunits in SCF ubiquitin ligase complexes, controlling which proteins are targeted for degradation by the cellular protein machinery. This gene is extremely intolerant to loss-of-function mutations based on population data, but specific disease associations and inheritance patterns have not yet been established in clinical practice. Mutations in this highly constrained gene would be expected to cause significant developmental abnormalities if identified in patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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
CAND1 · 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