NF1 gene

The NF1 gene is located on chromosome 17 (17q11.2) and codes for the protein neurofibromin. It contains 61 exons over 350 Kb of genomic DNA 1. NF1 is considered a tumor suppressor gene. 

Clinical significance

Neurofibromatosis 1 (NF1) is caused by mutations in the NF1 gene. There have been repeated attempts to establish a correlation between genotype and phenotype without success. The only established correlation is in patients with large gene deletions 1.

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Article information

rID: 65092
Synonyms or Alternate Spellings:
  • Neurofibromin gene

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