Janus kinase 2
Última actualización 18 Aug 2020
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El JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. This protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.
Normal function
El JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. This protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.
Conditions referring to this gene or chromosome
Otros nombres
JAK-2
JAK2_HUMAN
Janus kinase 2 (a protein tyrosine kinase)
JTK10
tyrosine-protein kinase JAK2
Related patient information and medicines
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Myelofibrosis is a condition affecting the bone marrow and its blood cell production. What is myelofibrosis. In myelofibrosis the cells... It's not known what causes the genetic mutation in blood stem cells. The gene mutation that occurs in most people affected by myelofibrosis es a mutation en Janus Kinase 2 (JAK2). Other gene mutations may also.
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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.
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Lecturas adicionales y referencias
- Janus kinase 2; MedlinePlus, National Library of Medicine.
- Basquiera AL, Soria NW, Ryser R, Salguero M, Moiraghi B, Sackmann F, Sturich AG, Borello A, Berretta A, Bonafe M, Barral JM, Palazzo ED, Garcia JJ. Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders. Hematology. 2009 Dec;14(6):323-30. doi: 10.1179/102453309X12473408860226.
- James C. The JAK2V617F mutation in polycythemia vera and other myeloproliferative disorders: one mutation for three diseases? Hematology Am Soc Hematol Educ Program. 2008:69-75. doi: 10.1182/asheducation-2008.1.69.
- Patel RK, Lea NC, Heneghan MA, Westwood NB, Milojkovic D, Thanigaikumar M, Yallop D, Arya R, Pagliuca A, Gaken J, Wendon J, Heaton ND, Mufti GJ. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006 Jun;130(7):2031-8. doi: 10.1053/j.gastro.2006.04.008.
- Spivak JL. Narrative review: Thrombocytosis, polycythemia vera, and JAK2 mutations: The phenotypic mimicry of chronic myeloproliferation. Ann Intern Med. 2010 Mar 2;152(5):300-6. doi: 10.7326/0003-4819-152-5-201003020-00008.
- Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010 Jun;24(6):1128-38. doi: 10.1038/leu.2010.69. Epub 2010 Apr 29.
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