CEP72
Chr 5centrosomal protein 72
CEP72 encodes a centrosomal protein that recruits key proteins to the centrosome and provides microtubule-nucleation activity essential for proper spindle formation and centriole duplication. Mutations cause autosomal recessive primary microcephaly and Seckel syndrome, neurodevelopmental disorders characterized by severe intellectual disability, growth retardation, and distinctive facial features with prenatal or early postnatal onset. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance patterns.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
CEP72 · 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