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). [5][6] CSF1R is a receptor that can be activated by two ligands: colony stimulating factor 1 (CSF-1) and ...

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.

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.

2023年1月5日 · ABSTRACT: 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.

CSF1R mutations are responsible for a significant proportion of clinically and pathologically proven hereditary diffuse leukoencephalopathies with spheroids. This study showed that Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia with CSF1R mutation.

The colony stimulating factor 1 receptor (CSF1R) is a key regulator of myeloid lineage cells. Genetic loss of the CSF1R blocks the normal population of resident microgliain the brain that originates from the yolk sac during early development. ...

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, also known as macrophage colony-stimulating factor receptor (M-CSFR or CD115), which belongs to the type III protein tyrosine kinase receptor family, is mainly restricted to cells of the mononuclear phagocyte lineage and macrophages in particular.

CSF1R -related disorder (CSF1R -RD) is a devastating autosomal dominant inherited white matter disorder characterized by a variable combination of cognitive impairment, neuropsychiatric changes, and motor symptoms including pyramidal and …