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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1


Other Names for this Disease

  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
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Cause

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What causes neurofibromatosis type 1 (NF1)?

Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene is located on the long (q) arm of chromosome 17 at position 11.2.[1]

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a non-functional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body. It is unclear how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as café-au-lait spots and learning disabilities.[2]
Last updated: 11/9/2011

References
  1. NF1 gene. Genetics Home Reference Website . 2007; http://ghr.nlm.nih.gov/gene/NF1. Accessed 11/9/2011.
  2. Neurofibromatosis type 1. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition=neurofibromatosistype1. Accessed 3/18/2011.


Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.