Colony stimulating factor 1 receptor (CSF1R), also known as macrophage colony-stimulating factor receptor (M-CSFR), and CD115 (Cluster of Differentiation 115), is a cell-surface protein encoded by the human CSF1R gene (known also as c-FMS).

2024年12月24日 · CSF1R (Colony Stimulating Factor 1 Receptor) is a Protein Coding gene. Diseases associated with CSF1R include Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 and Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis. Among its related pathways are GPCR Pathway and ERK Signaling.

2012年8月30日 · The diagnosis of CSF1R-related disorder is established in a proband with suggestive findings and a heterozygous CSF1R pathogenic variant or biallelic CSF1R pathogenic variants identified by molecular genetic testing.

2023年1月5日 · Colony-Stimulating Factor-1 Receptor (CSF1R) is a receptor tyrosine kinase that controls the differentiation and maintenance of most tissue-resident macrophages and bone-resorbing osteoclasts. Mutations of CSF1R have been implicated in neurodegeneration, skeletal anomalies, and cancers.

The CSF1R gene provides instructions for making a protein called the colony stimulating factor 1 receptor (CSF-1 receptor). Learn about this gene and related health conditions.

2020年10月23日 · Colony-stimulating factor-1 receptor (CSF1R) and its ligand CSF1 are elevated in CNS tissue derived from MS patients. We performed a large-scale RNA-sequencing experiment and identified...

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology. A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy.

2025年2月8日 · Clinical resource with information about CSF1R, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary, with spheroids 1, and available tests.

CSF1R Mutations Are the Major Cause of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. CSF1R signaling is important for the homeostatic, survival, proliferation and differentiation of the macrophage lineage cells, including microglia.

CSF1R signaling regulates the differentiation of myeloid cells toward an M2 phenotype of macrophage, which within the tumor microenvironment promotes survival, proliferation, and metastatic potential of tumor cells, along with suppressing antitumor immunity.