Conserved telomere maintenance component 1 (CTC1)

Conserved telomere maintenance component 1 (CTC1) is the largest subunit of the CST (CTC1–STN1–TEN1) complex, a trimeric protein complex essential for the replication and maintenance of telomeres in eukaryotic cells[1][2][3][5]. The CST complex binds single-stranded telomeric DNA, regulates telomerase activity, and is crucial for the synthesis of the telomeric C-strand, especially during late S/G2 phase of the cell cycle[1][4][5]. CTC1 helps to restart stalled replication forks during replication stress and works in conjunction with DNA polymerase alpha (Polα) to promote efficient telomere replication and C-strand fill-in[1][3][4]. Loss of CTC1 results in catastrophic telomere loss, genome instability, bone marrow failure, and a spectrum of human diseases, highlighting its critical role in genome integrity[1][2][5][6]. Mutations in the CTC1 gene have been directly implicated in the pathogenesis of disorders such as Coats plus syndrome, dyskeratosis congenita, and other telomere spectrum disorders[5][6].

Other names

CST complex subunit CTC1CTC1C17orf68FLJ22170AAF132Conserved telomere maintenance component 1HBV DNAPTP1-transactivated protein Bconserved telomere capping protein 1alpha accessory factor 132CRMCCCST telomere maintenance complex component 1CST telomere replication complex component 1CTS telomere maintenance complex component 1