HIF2 Alpha (Hypoxia-Inducible Factor 2 alpha) (AP)

HIF2 alpha (HIF2A), otherwise known as EPAS-1 (endothelial PAS domain-containing protein 1), a nuclear transcription factor, selectively expressed by endothelial cells, which acts as an inducer of oxygen-regulated genes, during oxygen depravation (hypoxia). HIF2A is involved in the regulation of vascular endothelial growth factor (VEGF) expression, and is implicated in vasculogenesis. Mutations in HIF2A are responsible for the autosomal dominant disorder erythrocytosis familial type 4 (ECYT4), characterized by elevated haemoglobin concentration, increased serum red blood cell mass, and haematocrit. Applications:...