CST telomere replication complex component 1
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Den CTC1 gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).
Normal function
Den CTC1 gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).
The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the maintenance of telomeres. This complex is part of the special machinery that some cells use to copy (replicate) telomeres so they do not become too short as cells divide. Studies suggest that the CTC1 protein may also have roles in DNA replication unrelated to telomeres, but these functions are not well understood.
Conditions referring to this gene or chromosome
Other names
AAF-132
AAF132
alpha accessory factor 132
C17orf68
conserved telomere capping protein 1
CRMCC
CST complex subunit CTC1
CTS telomere maintenance complex component 1
FLJ22170
HBV DNAPTP1-transactivated protein B
RP11-849F2.8
tmp494178
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Vidare läsning och referenser
- CST telomere replication complex component 1; MedlinePlus, National Library of Medicine.
- 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. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
- Chen LY, Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013 Oct 1;27(19):2099-108. doi: 10.1101/gad.222893.113.
- Gu P, Chang S. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Aging Cell. 2013 Dec;12(6):1100-9. doi: 10.1111/acel.12139. Epub 2013 Sep 4.
- Polvi A, Linnankivi T, Kivela T, Herva R, Keating JP, Makitie O, Pareyson D, Vainionpaa L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.
- Surovtseva YV, Churikov D, Boltz KA, Song X, Lamb JC, Warrington R, Leehy K, Heacock M, Price CM, Shippen DE. Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. Mol Cell. 2009 Oct 23;36(2):207-18. doi: 10.1016/j.molcel.2009.09.017.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Apr 2014 | Ursprungligen publicerad
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