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EpoR encodes the erythropoietin receptor, which belongs to the cytokine receptor family. When erythropoietin binds to this receptor, it activates the Jak2 tyrosine kinase, which in turn activates various intracellular pathways including Ras/MAP kinase, phosphatidylinositol 3-kinase, and STAT transcription factors. The stimulated erythropoietin receptor plays a role in the survival of erythroid cells. Defects in this gene may result in erythroleukemia and familial erythrocytosis. Dysregulation of this gene may also affect the growth of certain tumors. Multiple transcript variants are produced as a result of alternate splicing. Diseases associated with EPOR include Erythrocytosis, Familial, 1 and Erythroleukemia.
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