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Reviewed March 2007
What is the official name of the NF1 gene?
The official name of this gene is “neurofibromin 1.”
NF1 is the gene's official symbol. The NF1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NF1 gene?
The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. These specialized cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells.
Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division. Other potential functions for neurofibromin are under investigation.
How are changes in the NF1 gene related to health conditions?
Where is the NF1 gene located?
Cytogenetic Location: 17q11.2
Molecular Location on chromosome 17: base pairs 29,421,944 to 29,704,694
The NF1 gene is located on the long (q) arm of chromosome 17 at position 11.2.
More precisely, the NF1 gene is located from base pair 29,421,944 to base pair 29,704,694 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NF1?
You and your healthcare professional may find the following resources about NF1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the NF1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NF1?
bone marrow ; cancer ; cell ; cell division ; fever ; gene ; infection ; JMML ; juvenile ; juvenile myelomonocytic leukemia ; leukemia ; mast cells ; oligodendrocytes ; platelets ; protein ; Schwann cells ; tissue ; tumor ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (20 links)
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? in the Handbook.