URL of this page: https://medlineplus.gov/genetics/gene/nf1/

NF1 gene

neurofibromin 1
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Normal Function

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.

Health Conditions Related to Genetic Changes

Neurofibromatosis type 1

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.

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Cholangiocarcinoma

MedlinePlus Genetics provides information about Cholangiocarcinoma

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Lung cancer

MedlinePlus Genetics provides information about Lung cancer

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Cancers

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.

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol. 2004 Apr;17(2):101-5. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev. 2003 Feb;13(1):20-7. Review. Citation on PubMed
  • Gutmann DH. Neurofibromin in the brain. J Child Neurol. 2002 Aug;17(8):592-601; discussion 602-4, 646-51. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. Review. Citation on PubMed
  • Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. Review. Citation on PubMed
  • Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006 Jul;70(1):1-13. Review. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005 Apr;32(4):221-8. Review. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 2006 Mar;13(1):21-6. Review. Citation on PubMed
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