CTC1

Chr 17AR

CST telomere replication complex component 1

Also known as: AAF-132, AAF132, C17orf68, CRMCC, tmp494178

NCBI Gene: 80169 ENSG00000178971 UniProt: Q2NKJ3 OMIM: 613129

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cerebroretinal microangiopathy with calcifications and cystsMIM #612199

Clinical highlights

Gene-disease validity (ClinGen)

cerebroretinal microangiopathy with calcifications and cysts 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.63

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CTC1