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Gene

CTC1

CST telomere replication complex component 1

Summary

Cytogenetic location
17p13.1
Coordinates
Chromosome 17: 8,224,815–8,248,056 (GRCh38)
Exons
23 exons across 23.2 kb
Protein
1,217 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ22170, AAF132
Previous symbols
C17orf68
MANE Select transcript
ENST00000651323.1NM_025099.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dyskeratosis Congenita

    • Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

      • 1 GenCC submitter rates it definitive or strong
    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

  • Vitreoretinopathy

    • Coats Plus SyndromeAutosomal recessive

      Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CTC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where CTC1 sits. CTC1 and 34 genes near it on chromosome 17, from 7,736,436 to 8,736,435.Chromosome 1717p13.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.37.8 Mb8 Mb8.2 Mb8.4 Mb8.6 MbDNAH2: 7,717,728–7,833,742, forward strandDNAH2KDM6B: 7,834,193–7,854,808, forward strandKDM6BTMEM88: 7,855,057–7,856,114, forward strandTMEM88NAA38: 7,856,681–7,885,238, reverse strandNAA38CYB5D1: 7,857,696–7,862,282, forward strandCYB5D1CHD3: 7,884,787–7,912,760, forward strandRNF227: 7,913,238–7,916,377, reverse strandKCNAB3: 7,920,956–7,929,856, reverse strandKCNAB3: 7,925,931–7,930,622, reverse strandTRAPPC1: 7,930,345–7,932,123, reverse strandTRAPPC1CNTROB: 7,932,101–7,949,953, forward strandCNTROBGUCY2D: 8,002,615–8,020,342, forward strandGUCY2DALOX15B: 8,039,011–8,049,134, forward strandALOX15BALOX12B: 8,068,594–8,087,716, reverse strandALOX12BALOXE3: 8,095,900–8,119,047, reverse strandALOXE3HES7: 8,120,592–8,124,114, reverse strandHES7PER1: 8,140,467–8,156,506, reverse strand: 8,150,816–8,162,975, reverse strandVAMP2: 8,159,149–8,163,584, reverse strandVAMP2TMEM107: 8,172,440–8,176,408, reverse strandTMEM107BORCS6: 8,188,345–8,190,180, reverse strandBORCS6AURKB: 8,204,335–8,210,638, reverse strandAURKBCTC1: 8,224,815–8,248,056, reverse strandCTC1PFAS: 8,247,618–8,271,150, forward strandPFASSLC25A35: 8,287,762–8,295,410, reverse strandSLC25A35RANGRF: 8,288,631–8,290,092, forward strandRANGRFARHGEF15: 8,310,222–8,323,203, forward strandARHGEF15ODF4: 8,339,840–8,346,048, forward strandODF4KRABD2: 8,356,902–8,376,738, reverse strandKRABD2: 8,368,638–8,383,187, reverse strandRPL26: 8,377,500–8,384,062, reverse strandRNF222: 8,390,702–8,397,827, reverse strandRNF222NDEL1: 8,408,528–8,501,107, forward strandNDEL1MYH10: 8,474,205–8,632,303, reverse strandMYH10CCDC42: 8,729,930–8,745,970, reverse strandCCDC42Diagram of CTC1: 23 exons on the reverse strand of chromosome 17Exon 23: 3 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 13: 11 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 23: 8,224,815–8,228,319, 3,505 basesExon 22: 8,228,503–8,228,629, 127 basesExon 21: 8,228,727–8,228,892, 166 basesExon 20: 8,229,142–8,229,206, 65 basesExon 19: 8,229,302–8,229,446, 145 basesExon 18: 8,229,891–8,229,968, 78 basesExon 17: 8,230,294–8,230,468, 175 basesExon 16: 8,230,563–8,230,651, 89 basesExon 15: 8,231,276–8,231,469, 194 basesExon 14: 8,231,726–8,231,815, 90 basesExon 13: 8,231,903–8,232,227, 325 basesExon 12: 8,232,361–8,232,475, 115 basesExon 11: 8,232,906–8,233,032, 127 basesExon 10: 8,234,455–8,234,655, 201 basesExon 9: 8,234,749–8,234,926, 178 basesExon 8: 8,235,053–8,235,285, 233 basesExon 7: 8,235,831–8,235,959, 129 basesExon 6: 8,236,058–8,236,342, 285 basesExon 5: 8,237,375–8,237,519, 145 basesExon 4: 8,238,031–8,238,242, 212 basesExon 3: 8,238,392–8,238,629, 238 basesExon 2: 8,242,985–8,243,148, 164 basesExon 1: 8,248,004–8,248,056, 53 bases2322201816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7 kb of the gene's 23.2 kb; 3,654 of those bases code for the protein.

How a genome test reads CTC1

125

positions in CTC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23.2 kb of CTC1, introns included, not only the 7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CTC1 gene: CST telomere replication complex component 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ctc1

Vancouver

Dante Labs. CTC1 gene: CST telomere replication complex component 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ctc1

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