CST telomere replication complex component 1
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A 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
A 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
Related patient information and medicines
Patient information leaflet
Somatização e transtornos funcionais
People with functional disorders tend to be referred to various specialists, and have many tests and investigations b... Unfortunately, some of the tests that are done can be potentially harmful and increase the likelihood of disease in the future (for example, peito cancers from multiple tomografia computadorizada scans or peito x-rays). People with functional disorders.
Patient information leaflet
Envelhecimento
Globally, it predicts the number of people over 80 to triple between 2017 and 2050. The change that comes with age (the ageing process) is due to complex goings on inside the body. It may also be that the presence or absence of certain genes a... With repeated dividing, the telomeres - protetor structures at the end of the threads of genes.
Patient information leaflet
Síndrome de Cushing
Síndrome de Cushing é causado por too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
Patient information leaflet
Deficiência de alfa-1 antitripsina
There are many variations of the A1AT faulty gene. People with certain gene variations can be more severely affected than others. It has all got to do with the amount of normal A1AT that they are still able to produce. Only people with the lowest levels of A1AT in their blood will develop symptoms. A special test known as a phenotype test can show.
Patient information leaflet
Imunização pneumocócica
Pneumococcus can cause diseases such as pneumonia, meningitis and blood infections. Children aged under 2 years should receive the vaccine. You should consider pneumococcal immunisation if you are aged over 65 years or have certain diseases of the lung, heart, kidney, liver and nervous system. Pneumonia vaccine side-effects are mild, and many.
Patient information leaflet
Posso tomar Tetraciclina e Cálcio juntos?
Simply search for your medicines to see potential interactions and w... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions about your medications..
Leitura adicional e referências
- 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.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.