Macrophage colony-stimulating factor 1 receptor

Macrophage colony-stimulating factor 1 receptor (CSF1R) is a tyrosine-protein kinase that serves as a cell-surface receptor for CSF1 and IL34. It regulates survival, proliferation, and differentiation of hematopoietic precursor cells, particularly mononuclear phagocytes such as macrophages and monocytes. CSF1R activates multiple signaling pathways including ERK1/2, JNK, PI3K/AKT, and STAT family members, and plays roles in immune regulation, bone resorption, fertility, and cell migration (UniProt: P07333).

In the central nervous system, CSF1R may participate in microglial development. Beyond normal physiology, CSF1R mutations are associated with two hereditary neurodegenerative diseases: hereditary diffuse leukoencephalopathy with spheroids (HDLS1), characterized by white matter abnormalities and progressive dementia, and brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS), featuring calcifying leukoencephalopathy and progressive neurodegeneration (UniProt: P07333).

CSF1R is upregulated in Alzheimer's disease brain tissue compared to age-matched controls (mean log2FC = 1.34; Chaparral AD proteomics). This elevation suggests potential involvement in AD-associated neuroinflammatory or microglial processes, though further functional characterization is needed to establish mechanistic relevance.