Familial erythrocytosis

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Familial erythrocytosis type 1 is caused by mutations in the 508 amino acid erythropoietin receptor coded by the EPOR gene at 19p13.2. This is the receptor for erythropoietin and activates a JAK2/STAT5 signalling cascade.

Also SH2B3 (SH2B adapter protein 3) and JAK2 (Tyrosine-protein kinase JAK2) mutations can activate the receptor producing other types of familial erythrocytosis. Rarely EPO mutations can paradoxically cause the condition.

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