Janus kinase 2
Senast uppdaterad 18 aug 2020
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Den 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
Den 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
Other names
JAK-2
JAK2_HUMAN
Janus kinase 2 (a protein tyrosine kinase)
JTK10
tyrosine-protein kinase JAK2
Related patient information and medicines
Patient information leaflet
Myelofibros
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 is a mutation in Janus Kinase 2 (JAK2). Other gene mutations may also.
Patient information leaflet
Pomfolyx
Pompholyx is a type of eczema where there are itchy blisters on the hands and feet, followed by inflamed and dry skin. The condition is usually... Dapilumab : this medication is used for a type of eczema called atopic dermatitis. In some cases it has been shown to be helpful for the treatment of pompholyx. Janus Kinase (JAK) inhibitors : these.
Patient information leaflet
Juvenil idiopatisk artrit
As they are relatively new medicines, there are still studies being done to establish whether there are any long-term health risks from taking them. Options include: Etanercept Tocilizumab Infliximab Abatacept Adalimumab Tofacitinib is another new drug. It belongs to a type of drug called JAK kinase inhibitors. It is sometimes used if certain.
Patient information leaflet
Primär levercancer
Det develops från blood vessel cells within the liver. See the separate leaflet called Cancer for more general information about cancer. Liver cancer symptoms There may be no symptoms in the early stage of the disease. There are new medicines being developed for the treatment of liver cancer. For example, sorafenib is a type of medicine called a.
Patient information leaflet
Muncancer
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
Glykogenlagringssjukdomar
Glykogenlagringssjukdomar 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,.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Sept 2014 | Ursprungligen publicerad
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