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The official name of this gene is “colony stimulating factor 1 receptor.”
CSF1R is the gene's official symbol. The CSF1R gene is also known by other names, listed below.
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.
The CSF1R gene belongs to a family of genes called CD (CD molecules).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
Cytogenetic Location: 5q32
Molecular Location on chromosome 5: base pairs 150,053,290 to 150,113,371
The CSF1R gene is located on the long (q) arm of chromosome 5 at position 32.
More precisely, the CSF1R gene is located from base pair 150,053,290 to base pair 150,113,371 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CSF1R helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cell ; colony-stimulating factor ; differentiation ; domain ; factor I ; gene ; glia ; kinase ; leukoencephalopathy ; macrophage ; neurological ; oncogene ; proliferation ; protein ; proto-oncogene ; receptor ; sarcoma ; tissue ; white matter
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.