CSF receptors are members of cytokine receptors, including granulocyte-macrophage colony-stimulating factor receptor (GM-CSF receptor), granulocyte colony-stimulating factor receptor (G-CSF receptor) and macrophage colony-stimulating factor receptor (M-CSF receptor).
Granulocyte-macrophage colony-stimulating factor (GM-CSF) is a pluripotent cytokine produced by many cells in the body, which regulates normal and malignant hemopoiesis as well as innate and adaptive immunity. GM-CSF assembles and activates its heterodimeric receptor complex on the surface of myeloid cells, initiating multiple signaling pathways that control key functions such as cell survival, cell proliferation, and functional activation. GM-CSF receptor (GM-CSFR) also known as CD116 (Cluster of Differentiation 116), is normally located on myeloblast, mature neutrophil, but not on any erythroid or megakaryocytic lineage cells.
M-CSF receptor (M-CSFR) also known as CD115 (Cluster of Differentiation 115), is a cell-surface protein encoded, in humans, by the CSF1R gene. Mutations in CSF1R/CD115 are associated with chronic myelomonocytic leukemia and type M4 acute myeloblastic leukemia. Increased levels of CSF1R/CD115 are found in microglia in Alzheimer's disease and after brain injuries. The increased receptor expression causes microglia to become more active. Both CSF1R/CD115, and its ligand colony stimulating factor 1 play an important role in the development of the mammary gland and may be involved in the process of mammary gland carcinogenesis.
Gene CSF3R encodes G-CSF receptor which binds colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.
Gene CSF2RB encodes the protein which is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP).