Neurofibromin and suppression of tumorigenesis: beyond the GAP

Juan Mo, Stefanie L. Moye, Renee M. McKay, Lu Q. Le

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 individuals worldwide. The NF1 gene encodes neurofibromin, a large protein with RAS GTP-ase activating (RAS-GAP) activity, and loss of NF1 results in increased RAS signaling. Neurofibromin contains many other domains, and there is considerable evidence that these domains play a role in some manifestations of NF1. Investigating the role of these domains as well as the various signaling pathways that neurofibromin regulates and interacts with will provide a better understanding of how neurofibromin acts to suppress tumor development and potentially open new therapeutic avenues. In this review, we discuss what is known about the structure of neurofibromin, its interactions with other proteins and signaling pathways, its role in development and differentiation, and its function as a tumor suppressor. Finally, we discuss the latest research on potential therapeutics for neurofibromin-deficient neoplasms.

Original languageEnglish (US)
Pages (from-to)1235-1251
Number of pages17
Issue number9
StatePublished - Feb 25 2022

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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