CTC1 is one of the three components of the CST complex that assists Shelterin to protect the ends of telomeres from attack by DNA-repair mechanisms. Mutations in human CTC1 have been recognised as contributing to cerebroretinal microangiopathy. [1]. 19854130. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to. single-stranded DNA and protects telomeres independently of the. Pot1 pathway.. Miyake Y, Nakamura M, Nabetani A, Shimamura S, Tamura M,. Yonehara S, Saito M, Ishikawa F;. Mol Cell. 2009;36:193-206.. [2]. 22267198. Mutations in CTC1, encoding conserved telomere maintenance. component 1, cause Coats plus.. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM,. Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J,. Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P,. Berger A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat. D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH,. Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont. S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S,. Lourenco CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K,. Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C,. Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS,. Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A,. Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice. GI, Crow YJ;. Nat Genet. 2012;44:338-342.. [3]. 22387016. Mutations in CTC1, encoding the CTS telomere maintenance complex. component 1, cause cerebroretinal microangiopathy with. calcifications and cysts.. Polvi A, Linnankivi T, Kivela T, Herva R, Keating JP, Makitie O,. P. TRUNCATED at 1650 bytes (from Pfam)
GO Terms:- Molecular Function:
- single-stranded DNA binding (GO:0003697)
- Date:
- 2024-08-14