thymidine kinase 2
עודכן לאחרונה 5 Jul 2022
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ה TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, including energy production; chemical signaling; and regulation of cell growth, cell division, and cell death. Mitochondria contain their own genetic material, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Thymidine kinase 2 is involved in the production and maintenance of mtDNA. Specifically, this enzyme plays a role in recycling mtDNA building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced.
Normal function
ה TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, including energy production; chemical signaling; and regulation of cell growth, cell division, and cell death. Mitochondria contain their own genetic material, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Thymidine kinase 2 is involved in the production and maintenance of mtDNA. Specifically, this enzyme plays a role in recycling mtDNA building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced.
Conditions referring to this gene or chromosome
Other names
KITM_HUMAN
mt-TK
MTDPS2
MTTK
Related patient information and medicines
Patient information leaflet
סרטן הפה
Epidermal growth factor receptor monoclonal antibody (EGFR mAb) is one form of targeted therapy. Cetuximab is an EGFR mAb. Tyrosine kinase inhibitors (TKIs) are another. Immunotherapy is treatment that aims to boost the body's own immune system to destroy the cancer cells. It is also sometimes called biological therapy: Recombinant interleukin.
Patient information leaflet
לוקמיה מיאלואידית כרונית
Treatment for the initial chronic phase The aim of treatment is to control the disease process, to ease any symptoms and to prevent (or delay) the progress... You may be advised to have one or more of the following treatments: Imatinib tablets. This medicine is known as a tyrosine kinase inhibitor. The chemical tyrosine kinase is made by the.
Patient information leaflet
הפרעות אגירת גליקוגן
הפרעות אגירת גליקוגן are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness,.
Patient information leaflet
ניוון שרירים
Different types of MD affect different muscle areas (known as. The muscle weakness itself may be m... Also, if a child has delayed motor milestones (as mentioned above), a doctor may advise testing for MD, even though the problem could be due to another cause. MD may be diagnosed using one or more of the following tests: A blood test for creatine.
Patient information leaflet
סרטן כבד ראשוני
Everyone with שחמת should be having regular monitoring with an ultrasound and blood tests to detect any development of a liver cancer. As the cancer develops further, more specific symptoms which may also develop include: Tummy (abdominal) pain over the liver area. There are new medicines being developed for the treatment of liver cancer. For.
Patient information leaflet
דיאטת 5:2
ה דיאטת 5:2 is a calorie-restricted תזונה that involves eating 'normally' for five days out of seven and then 'fasting' on the other two days out of seven. The proposed health effects of the 5:2 diet include weight loss, improvement in life expectancy, protection against certain cancers and protection against dementia. However, the evidence.
קריאה נוספת והפניות
- thymidine kinase 2; MedlinePlus, National Library of Medicine.
- Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557-60. doi: 10.1016/j.nmd.2008.04.014. Epub 2008 May 27.
- Eriksson S, Wang L. Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):800-8. doi: 10.1080/15257770802146197.
- Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013.
- Gotz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpaa-Heikkila O, Valanne L, Marjavaara S, Suomalainen A. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.
- Munch-Petersen B. Enzymatic regulation of cytosolic thymidine kinase 1 and mitochondrial thymidine kinase 2: a mini review. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):363-9. doi: 10.1080/15257771003729591.
הצטרפו לשיחה
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