CENPE
Chr 4ARcentromere protein E
Also known as: CENP-E, KIF10, MCPH13, PPP1R61
Centrosome-associated protein E is a kinesin-like motor protein that drives chromosome alignment during cell division by mediating chromosome movement along spindle microtubules and establishing stable kinetochore-microtubule attachments. Mutations cause autosomal recessive microcephaly with seizures and intellectual disability, with this gene being highly constrained against loss-of-function variants (LOEUF 0.308). The condition typically presents in early infancy with severe developmental delays and intractable epilepsy.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
CENPE · 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