Topic Completed: 1 June 2005

Minor changes: 7 March 2019

Copyright: 2002-2015,, Inc.

PubMed Search: Neurofibromin [title]

Nat Pernick, M.D.
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Table of Contents
Definition / general
Cite this page: Pernick N. Neurofibromin. website. Accessed August 15th, 2020.
Definition / general
  • Tumor suppressor gene produced by NF1 gene at 17q11.2
  • Member of GTPase activating protein (GAP) family of RAS regulatory proteins
  • Downregulates p21 and Ras, and also links integral membrane protein with cytoskeleton; mutations cause constitutive RAS activation
  • Heterogeneous mutations seen in neurofibromatosis type 1 (NF1), the most common autosomal dominant inherited disorder in humans (1 per 3000)
    • Disorder characterized by benign tumors of peripheral nerves, cafe au lait spots, retinal hamartomas
    • Also increased risk of malignancy, gastrointestinal stromal tumors (Am J Surg Pathol 2005;29:1170)
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