2mv6
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Solution structure of the transmembrane domain and the juxta-membrane domain of the Erythropoietin Receptor in micelles
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Structural highlights
DiseaseEPOR_HUMAN Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:133100. ECYT1 is an autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia.[1] [2] [3] FunctionEPOR_HUMAN Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase. Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling. See AlsoReferences
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This page was last modified 07:02, 1 May 2024.