erythropoietin receptor
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L EPOR gene provides instructions for making a protein called the erythropoietin receptor. Erythropoietin is a hormone that directs the production of new red blood cells (erythrocytes) in the bone marrow. Red blood cells make up about half of total blood volume, and their primary function is to carry oxygen from the lungs to tissues and organs throughout the body. New red blood cells are constantly being produced by the body as worn-out red blood cells are broken down. To trigger the production of red blood cells, erythropoietin attaches (binds) to the erythropoietin receptor. This binding turns on (activates) the receptor, which stimulates several signaling pathways (particularly a cascade of signals known as the JAK/STAT pathway) that lead to the formation and maturation of red blood cells.
Normal function
L EPOR gene provides instructions for making a protein called the erythropoietin receptor. Erythropoietin is a hormone that directs the production of new red blood cells (erythrocytes) in the bone marrow. Red blood cells make up about half of total blood volume, and their primary function is to carry oxygen from the lungs to tissues and organs throughout the body. New red blood cells are constantly being produced by the body as worn-out red blood cells are broken down. To trigger the production of red blood cells, erythropoietin attaches (binds) to the erythropoietin receptor. This binding turns on (activates) the receptor, which stimulates several signaling pathways (particularly a cascade of signals known as the JAK/STAT pathway) that lead to the formation and maturation of red blood cells.
Conditions referring to this gene or chromosome
Altri nomi
EPO-R
EPOR_HUMAN
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Ulteriori letture e riferimenti
- erythropoietin receptor; MedlinePlus, National Library of Medicine.
- Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galacteros F, Goossens M, Wajcman H, Prehu C, Ugo V. A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene. Haematologica. 2008 Jul;93(7):1072-5. doi: 10.3324/haematol.12260. Epub 2008 May 19.
- Constantinescu SN, Ghaffari S, Lodish HF. The Erythropoietin Receptor: Structure, Activation and Intracellular Signal Transduction. Trends Endocrinol Metab. 1999 Dec;10(1):18-23. doi: 10.1016/s1043-2760(98)00101-5.
- de la Chapelle A, Traskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A. 1993 May 15;90(10):4495-9. doi: 10.1073/pnas.90.10.4495.
- Hodges VM, Rainey S, Lappin TR, Maxwell AP. Pathophysiology of anemia and erythrocytosis. Crit Rev Oncol Hematol. 2007 Nov;64(2):139-58. doi: 10.1016/j.critrevonc.2007.06.006. Epub 2007 Jul 25.
- Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6):844-52. doi: 10.1111/j.1365-2141.2009.08069.x. Epub 2010 Jan 20.
- Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313.
- Percy MJ. Genetically heterogeneous origins of idiopathic erythrocytosis. Hematology. 2007 Apr;12(2):131-9. doi: 10.1080/10245330601111979.
- Watowich SS, Xie X, Klingmuller U, Kere J, Lindlof M, Berglund S, de la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood. 1999 Oct 1;94(7):2530-2.
- Watowich SS. The erythropoietin receptor: molecular structure and hematopoietic signaling pathways. J Investig Med. 2011 Oct;59(7):1067-72. doi: 10.2310/JIM.0b013e31820fb28c.
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