Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 29 September 2013, last major update June 2005
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
PubMed Search: Neurofibromin[title]
- 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)
End of Stains > Neurofibromin
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