dyskerin pseudouridine synthase 1
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).
Normal function
L DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres 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).
Telomeres are maintained by two important protein complexes, telomerase and shelterin. Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. One component of telomerase, called hTR, provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The dyskerin protein attaches (binds) to hTR and helps stabilize the telomerase complex.
In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.
Dyskerin is also involved in the production of ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA is required for assembling protein building blocks (amino acids) into functioning proteins.
Conditions referring to this gene or chromosome
Altri nomi
CBF5
CBF5 homolog
cbf5p homolog
DKC
DKC1_HUMAN
dyskeratosis congenita 1, dyskerin
dyskerin
FLJ97620
H/ACA ribonucleoprotein complex subunit 4
H/ACA ribonucleoprotein complex subunit 4 isoform 1
H/ACA ribonucleoprotein complex subunit 4 isoform 2
NAP57
NOLA4
nopp140-associated protein of 57 kDa
nucleolar protein family A member 4
nucleolar protein NAP57
snoRNP protein DKC1
XAP101
Related patient information and medicines
Patient information leaflet
Viaggiare verso località remote
Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an excellent handbook covering what to do as a layperson in most medical situations you might encounter. Equipment Thermom....
Patient information leaflet
Arterite a cellule giganti
Giant cell arteritis (temporal arteritis) causes No one really knows exactly what causes giant cell arteritis (temporal arteritis). We do know that there are genetic changes in some people which make them more likely to develop giant cell (temporal) arteritis. Who is likely to develop giant cell arteritis (temporal arteritis). Giant cell.
Patient information leaflet
Effluvio telogen
Telogen effluvium (hair loss) is a condition where more than normal amounts of hair fall out. There is a general 'thinning' of the hair. Unlike some other hair and scalp conditions, it is temporary and the hair growth usually recovers. What is telogen effluvium. Telogen effluvium is rapid hair loss that is caused by stress or a change to your.
Patient information leaflet
Calcoli renali
Calcoli renali sono hard stones that can cause severe pain in your side along with blood in your urine, and nausea and vomiting. You are more likely to develop kidney stones if you eat a Western diet, don't drink enough fluids or are overweight. Once you have had one episode they are likely to recur but there are several kidney stone treatment.
Patient information leaflet
la malattia di Wilson
la malattia di Wilson is a genetic ricorrenti in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
Patient information leaflet
Verruche e porri
Warts are usually harmless but may be unsightly. Warts on the feet are called verrucas (or verrucae) and are sometimes painful. Warts and verrucas usually clear in time without treatment. If required, they can often be cleared more quickly with treatment. Most commonly, treatment involves applying salicylic acid or freezing with liquid nitrogen or.
Ulteriori letture e riferimenti
- dyskerin pseudouridine synthase 1; MedlinePlus, National Library of Medicine.
- Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23.
- Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480.
- Gu B, Bessler M, Mason PJ. Dyskerin, telomerase and the DNA damage response. Cell Cycle. 2009 Jan 1;8(1):6-10. doi: 10.4161/cc.8.1.7265. Epub 2009 Jan 24.
- Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7.
- Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet. 2008 Feb;73(2):103-12. doi: 10.1111/j.1399-0004.2007.00923.x. Epub 2007 Nov 14.
- Montanaro L. Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer. J Pathol. 2010 Dec;222(4):345-9. doi: 10.1002/path.2777.
- Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1.
- Rostamiani K, Klauck SM, Heiss N, Poustka A, Khaleghi M, Rosales R, Metzenberg AB. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):88. doi: 10.1016/j.bcmd.2009.10.005. Epub 2009 Oct 29. No abstract available.
- Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008 Jan;90(1):122-30. doi: 10.1016/j.biochi.2007.07.017. Epub 2007 Jul 31.
- Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.