Author: Nat Pernick, M.D. (see Authors page)

Revised: 16 November 2015, last major update June 2005

Copyright: (c) 2002-2015,, Inc.

PubMed Search: Neurofibromin [title]

Table of Contents
Definition / General
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)