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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.
More About This Health ConditionOther 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
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Barreda DR, Hanington PC, Belosevic M. Regulation of myeloid development and function by colony stimulating factors. Dev Comp Immunol. 2004 May 3;28(5):509-54. doi: 10.1016/j.dci.2003.09.010. Citation on PubMed
- Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 Feb;260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30. Citation on PubMed
- Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Citation on PubMed
- Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027. Citation on PubMed or Free article on PubMed Central
- Sherr CJ. Colony-stimulating factor-1 receptor. Blood. 1990 Jan 1;75(1):1-12. No abstract available. Citation on PubMed
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