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Genetics Home Reference: your guide to understanding genetic conditions
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NF1

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.

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?

neurofibromatosis type 1 - caused by mutations in the NF1 gene

More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Most of these mutations are unique to a particular family. Many NF1 mutations result in the production of an extremely short version of neurofibromin. This shortened protein cannot perform its normal job of inhibiting cell division. When mutations occur in both copies of the NF1 gene in Schwann cells, the resulting loss of neurofibromin allows noncancerous tumors called neurofibromas to form. Research indicates that the formation of neurofibromas requires the interaction of Schwann cells with other cells, including mast cells. Mast cells are normally involved in wound healing and tissue repair.

cancers - associated with the NF1 gene

In rare cases, inactivation of one copy of the NF1 gene in each cell increases the risk of developing juvenile myelomonocytic leukemia (JMML). Juvenile myelomonocytic leukemia is cancer of blood-forming tissue that usually occurs in children younger than 2. This condition causes the bone marrow to make an excessive number of immature white blood cells that cannot carry out their normal infection-fighting functions. These abnormal cells can build up in the blood and bone marrow, leaving less room for healthy white blood cells, red blood cells, and platelets. Children affected by this disorder may experience fatigue, fever, and easy bleeding or bruising.

Where is the NF1 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 31,045,487 to 31,377,676

The NF1 gene is located on the long (q) arm of chromosome 17 at position 11.2.

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 31,045,487 to base pair 31,377,676 on chromosome 17.

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 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?

  • Neurofibromatosis-related protein NF-1
  • Neurofibromatosis Type 1 Protein
  • neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
  • NF1-GAP-Related Protein
  • NF1 GRP
  • NF1_HUMAN
  • NF1 Protein

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 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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol. 2004 Apr;17(2):101-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021234?dopt=Abstract)
  • Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors: II. The role of dysregulated growth factor signaling. J Neuropathol Exp Neurol. 2005 Jan;64(1):1-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15715079?dopt=Abstract)
  • Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors. I. The role of tumor suppressor mutations. J Neuropathol Exp Neurol. 2004 Nov;63(11):1115-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15581179?dopt=Abstract)
  • Cooper LJ, Shannon KM, Loken MR, Weaver M, Stephens K, Sievers EL. Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cell. Blood. 2000 Sep 15;96(6):2310-3. (http://www.ncbi.nlm.nih.gov/pubmed/10979983?dopt=Abstract)
  • Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev. 2003 Feb;13(1):20-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12573431?dopt=Abstract)
  • Gutmann DH. Neurofibromin in the brain. J Child Neurol. 2002 Aug;17(8):592-601; discussion 602-4, 646-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12403558?dopt=Abstract)
  • Gutzmer R, Herbst RA, Mommert S, Kiehl P, Matiaske F, Rütten A, Kapp A, Weiss J. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum Genet. 2000 Oct;107(4):357-61. (http://www.ncbi.nlm.nih.gov/pubmed/11129335?dopt=Abstract)
  • Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002 Mar;19(3):309. (http://www.ncbi.nlm.nih.gov/pubmed/11857752?dopt=Abstract)
  • Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12403555?dopt=Abstract)
  • Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11110599?dopt=Abstract)
  • Lauchle JO, Braun BS, Loh ML, Shannon K. Inherited predispositions and hyperactive Ras in myeloid leukemogenesis. Pediatr Blood Cancer. 2006 May 1;46(5):579-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16261595?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4763)
  • Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, Small J, Korf B. Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 2002 May 28;58(10):1461-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12041525?dopt=Abstract)
  • Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11286939?dopt=Abstract)
  • Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006 Jul;70(1):1-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16813595?dopt=Abstract)
  • Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006 Jul;70(1):1-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16813595?dopt=Abstract)
  • Viskochil DH. It takes two to tango: mast cell and Schwann cell interactions in neurofibromas. J Clin Invest. 2003 Dec;112(12):1791-3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14679174?dopt=Abstract)
  • Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005 Apr;32(4):221-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15797177?dopt=Abstract)
  • Yang FC, Ingram DA, Chen S, Hingtgen CM, Ratner N, Monk KR, Clegg T, White H, Mead L, Wenning MJ, Williams DA, Kapur R, Atkinson SJ, Clapp DW. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003 Dec;112(12):1851-61. (http://www.ncbi.nlm.nih.gov/pubmed/14679180?dopt=Abstract)
  • Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 2006 Mar;13(1):21-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16818172?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: March 2007
Published: September 15, 2014