CEP55
Chr 10ARcentrosomal protein 55
Also known as: C10orf3, CT111, MARCH, URCC6
CEP55 encodes a protein that recruits PDCD6IP and TSG101 to the midbody during cytokinesis and is required for successful completion of cell division. Mutations cause multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly through autosomal recessive inheritance. This gene is extremely intolerant to loss-of-function variants and affects both brain and kidney development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
CEP55 · 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