ERC1
ERC1
Description
Erythropoietin receptor (ERC1) is a protein that plays a crucial role in the regulation of red blood cell production. It is encoded by the EPO gene located on chromosome 7. ERC1 functions by binding to erythropoietin (EPO), a hormone produced primarily by the kidneys in response to low oxygen levels. Upon binding of EPO to ERC1, a cascade of intracellular signaling events occurs, ultimately leading to an increase in the number of red blood cells produced.
Associated Diseases
Dysregulation of ERC1 activity is associated with several diseases:
- Polycythemia Vera: A condition characterized by an excessive production of red blood cells, leading to an increased blood viscosity and potential complications such as thrombosis and strokes. Mutations in the JAK2 gene, which encodes a signaling protein involved in the ERC1 pathway, drive this condition.
- Erythrocytosis of High Altitude: A physiological response to high altitudes where oxygen levels are lower, characterized by an increased production of red blood cells without a detectable underlying cause.
- Iron Deficiency Anemia: A condition resulting from insufficient iron, which is necessary for red blood cell production. Mutations in the EPO gene or ERC1 itself can lead to impaired EPO signaling and insufficient red blood cell production.
Did you Know ?
- It is estimated that over 2% of the world's population carries mutations in the EPO gene or ERC1, which can lead to various red blood cell disorders.
