CNTLN
Chr 9centlein
Also known as: C9orf101, C9orf39, bA340N12.1
The CNTLN protein is required for centrosome cohesion and recruitment of CEP68 to centrosomes, functioning in centriole-centriole cohesion and protein localization. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay, typically presenting in infancy with severe intellectual disability and growth retardation. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNTLN · 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