Gene: CTC1

Alternate names for this Gene: AAF-132|AAF132|C17orf68|CRMCC|tmp494178

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: CST telomere replication complex component 1

Type of Gene: protein-coding

rs199473677 in CTC1 gene and CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 25182133 2015 Clinical utility gene card for: Dyskeratosis congenita - update 2015.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

rs1320809462 in CTC1 gene and CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 22899577 2013 Mutations in the telomere capping complex in bone marrow failure and related syndromes.

PMID 22532422 2012 CTC1 Mutations in a patient with dyskeratosis congenita.

PMID 24115768 2013 Molecular basis of telomere syndrome caused by CTC1 mutations.

PMID 29481669 2018 Pathogenic CTC1 mutations cause global genome instabilities under replication stress.

rs7503199 in CTC1 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs199473674 in CTC1 gene and Dyskeratosis Congenita PMID 22532422 2012 CTC1 Mutations in a patient with dyskeratosis congenita.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 22899577 2013 Mutations in the telomere capping complex in bone marrow failure and related syndromes.

PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 24115768 2013 Molecular basis of telomere syndrome caused by CTC1 mutations.

PMID 29481669 2018 Pathogenic CTC1 mutations cause global genome instabilities under replication stress.