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Genetics Home Reference: your guide to understanding genetic conditions
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CSF1R

Reviewed December 2012

What is the official name of the CSF1R gene?

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.

What is the normal function of the CSF1R gene?

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 defined functions (differentiation).

Does the CSF1R gene share characteristics with other genes?

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.

How are changes in the CSF1R gene related to health conditions?

hereditary diffuse leukoencephalopathy with spheroids - caused by mutations in the CSF1R gene

More than a dozen mutations in the CSF1R gene have been found in people with hereditary diffuse leukoencephalopathy with spheroids (HDLS). HDLS 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 HDLS 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. It is unclear, though, how the gene mutations lead to white matter damage or cognitive and movement problems in people with HDLS.

Where is the CSF1R gene located?

Cytogenetic Location: 5q32

Molecular Location on chromosome 5: base pairs 149,432,853 to 149,492,934

The CSF1R gene is located on the long (q) arm of chromosome 5 at position 32.

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 149,432,853 to base pair 149,492,934 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CSF1R?

You and your healthcare professional may find the following resources about CSF1R helpful.

  • Educational resources - Information pages
    Madame Curie Bioscience Database (2000): CSF-1 (http://www.ncbi.nlm.nih.gov/books/NBK6056/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hdls)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for CSF1R (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1436%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CSF1R%5BTIAB%5D)%20OR%20(colony%20stimulating%20factor%201%20receptor%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/164770)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/CSF1RID40161ch5q32.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1436)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1436)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2433)

What other names do people use for the CSF1R gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CSF1R?

acids ; cell ; colony-stimulating factor ; differentiation ; domain ; gene ; 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 (http://www.ghr.nlm.nih.gov/glossary).

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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15062647?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1436)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/23052599?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/23038421?dopt=Abstract)
  • OMIM: COLONY-STIMULATING FACTOR 1 RECEPTOR (http://omim.org/entry/164770)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22197934?dopt=Abstract)
  • Sherr CJ. Colony-stimulating factor-1 receptor. Blood. 1990 Jan 1;75(1):1-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/2153029?dopt=Abstract)

 

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.

 
Reviewed: December 2012
Published: May 13, 2013