Erythropoietin receptor

Erythropoietin receptor (EPOR) is a protein that is encoded by the EPOR gene in humans. It is a member of the cytokine receptor family. Erythropoietin receptors interact with Erythropoietin (EPO), a hormone produced primarily by the kidneys, to stimulate the production of red blood cells in the bone marrow.

Structure

The Erythropoietin receptor is a type I cytokine receptor. It is a single-pass transmembrane protein, meaning it spans the cell membrane once. The extracellular portion of the receptor binds to Erythropoietin, while the intracellular portion transmits the signal to the cell's machinery.

Function

The primary function of the Erythropoietin receptor is to mediate the effects of Erythropoietin. When Erythropoietin binds to the receptor, it triggers a series of events inside the cell that ultimately lead to the production of red blood cells. This process is known as Erythropoiesis.

Clinical significance

Mutations in the EPOR gene can lead to various diseases. For example, primary familial and congenital polycythemia is caused by a mutation in the EPOR gene that results in an overly active Erythropoietin receptor. This leads to an overproduction of red blood cells, which can thicken the blood and increase the risk of blood clots.

In addition, Erythropoietin and its receptor play a role in certain types of cancer. Some cancer cells produce Erythropoietin, which can stimulate their own growth by binding to the Erythropoietin receptor.

See also

• Erythropoietin
• Erythropoiesis
• Cytokine receptor
• Red blood cell

References

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