CTC1
Chr 17ARCST telomere replication complex component 1
Also known as: AAF-132, AAF132, C17orf68, CRMCC, tmp494178
The protein is a component of the CST complex that protects telomeres from degradation and promotes DNA replication under stress conditions, including telomere replication and recovery from DNA damage. Autosomal recessive mutations cause cerebroretinal microangiopathy with calcifications and cysts, a disorder affecting the brain and retinal vasculature. The gene shows low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CTC1 · 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