CSF3R

Description

The CSF3R gene encodes for the colony-stimulating factor 3 receptor (CSF3R), a protein that plays a crucial role in the development, differentiation, and survival of granulocytes, a type of white blood cell essential for the immune system. CSF3R binds to granulocyte colony-stimulating factor (G-CSF), triggering a cascade of intracellular signaling events that promote granulocyte proliferation, maturation, and activation. This complex process ensures a balanced and effective immune response to infections and other threats.

Associated Diseases

• Acute myeloid leukemia (AML)
• Myeloproliferative neoplasms (MPN)
• Severe congenital neutropenia (SCN)
• Atypical chronic myeloid leukemia (aCML)
• Hypereosinophilic syndrome (HES)
• Graft-versus-host disease (GVHD)

Did you know?

Mutations in the CSF3R gene can lead to both increased and decreased immune function, highlighting the delicate balance this gene regulates.