EGLN1

Description

The EGLN1 gene, encoding the enzyme prolyl hydroxylase domain protein 2 (PHD2), plays a crucial role in cellular oxygen sensing and erythropoiesis. PHD2 is a key component of the hypoxia-inducible factor (HIF) pathway, which regulates gene expression in response to low oxygen levels. Under hypoxic conditions, PHD2 activity is inhibited, leading to HIF stabilization and activation of target genes involved in erythropoiesis, angiogenesis, and metabolism. EGLN1 mutations can lead to various disorders, particularly affecting red blood cell production.

Associated Diseases

• Familial Chuvash polycythemia
• Idiopathic erythrocytosis
• Erythrocytosis with increased hemoglobin affinity
• Congenital erythrocytosis
• VHL disease

Did you know?

EGLN1 is highly expressed in the kidney, where it regulates erythropoietin production, a hormone essential for red blood cell formation.