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.
