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.

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.631 OMIM phenotype

Clinical Summary— CTC1

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Gene-Disease Validity (ClinGen)

cerebroretinal microangiopathy with calcifications and cysts 1 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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