PRC1
Chr 15protein regulator of cytokinesis 1
Also known as: ASE1, MAP65
This gene encodes a key regulator of cytokinesis that cross-links antiparallel microtubules and is essential for controlling midzone formation and successful cell division. Biallelic mutations cause microcephaly with chorioretinopathy, which involves neurodevelopmental abnormalities and eye malformations with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.621), reflecting its essential role in cell division.
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 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
PRC1 · 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