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GENATLAS PHENOTYPE
last update : 18-02-2009
Symbol ECYT3
Location 1q42.2
Name erythrocytosis/polycythemia, familial, 3
Corresponding gene EGLN1
Main clinical features increase in red cell mass and hematocrit, with normal EPO levels
Genetic determination autosomal dominant
Function/system disorder hematology
Type disease
Gene product
Name prolyl hydroxylase domain protein 2, that hydroxylates HIF
Remark(s)