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CSF1R gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CSF1R gene

The CSF1R gene provides instructions for making a receptor protein that regulates critical cellular processes, including the growth and maturation of glial cells in the brain.

Normal Function

The CSF1R gene provides instructions for making a protein called the colony stimulating factor 1 receptor (CSF-1 receptor). This protein is found in the outer membrane of certain cell types. When a specific protein called colony stimulating factor 1 attaches (binds) to it, the receptor turns on (activates) a series of proteins inside the cell that are part of multiple signaling pathways. The signaling pathways stimulated by the CSF-1 receptor control many important cellular processes such as cell growth and division (proliferation) and maturation of cells to take on specific functions (differentiation).

In the brain, the CSF-1 receptor is abundant in the membrane of specialized cells called glial cells. These cells protect and maintain nerve cells (neurons). The CSF-1 receptor is thought to be involved in the proliferation and differentiation of glial cells, but its exact role in the brain is unclear.

Health Conditions Related to Genetic Changes

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

More than a dozen mutations in the CSF1R gene have been found in people with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ALSP is a severe neurological disorder characterized by damage to a type of brain tissue called white matter. Symptoms of this condition typically begin in adulthood and progress to severe cognitive and movement problems.

Most CSF1R gene mutations in ALSP change single protein building blocks (amino acids) in the CSF-1 receptor. Other mutations change the sequence of amino acids in other ways. The mutations all occur in the region of the receptor that activates other proteins (called the kinase domain). It is likely that the altered receptor is unable to stimulate cell signaling pathways. However, it is unclear how the gene mutations lead to white matter damage or cognitive and movement problems in people with ALSP.

Other Names for This Gene

  • C-FMS
  • CD115
  • CD115 antigen
  • CSF-1 receptor
  • CSF-1R
  • CSF1R_HUMAN
  • CSFR
  • FIM2
  • FMS
  • FMS proto-oncogene
  • M-CSF-R
  • macrophage colony stimulating factor I receptor
  • macrophage colony-stimulating factor 1 receptor
  • McDonough feline sarcoma viral (v-fms) oncogene homolog
  • proto-oncogene c-Fms

Frequently Asked Questions

Most pathogenic CSF1R variants are inherited in an autosomal‑dominant manner, meaning a single altered copy can cause disease. Each child of an affected individual has a 50 % chance of inheriting the mutation.
xonal spheroids are swollen nerve fiber endings seen in white‑matter lesions typical of ALSP. Their presence on MRI, together with clinical decline, strongly suggests a CSF1R pathogenic variant, especially when white‑matter loss is diffuse and progressive.
No disease‑modifying therapy is approved yet. Management focuses on symptomatic care—physical therapy for gait problems, speech therapy for dysarthria, and antiepileptic drugs if seizures occur. Clinical trials of microglial‑targeted agents are ongoing, so discuss trial eligibility with your specialist.
Testing is recommended if a close relative has a confirmed CSF1R‑related disorder or if you show early neurological signs. A blood sample can be sent for targeted sequencing of CSF1R; results help with diagnosis, prognosis, and family planning.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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