von Hippel Lindau (VHL)
Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 31 August 2013, last major update June 2005
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- Tumor suppressor gene (autosomal dominant) at 3p25-26, with 3 regions (A, B, C)
- Familial cases of von Hippel Lindau syndrome are associated with translocations of this gene
- Gene is inactivated by hypermethylation of CpG island in 5' region causing lack of expression of VHL or by mutation in binding region
- Wild type protein competes with A subunit for binding to B/C complex; active mutation occurs in homologous sequence region
- Mutated protein does not bind to elongin B and C subunits, which allows subunit A to bind, and increases rate of elongation through suppression of RNA polymerase pausing
- Abnormalities associated with renal cell carcinoma, clear cell type
End of Stains > von Hippel Lindau (VHL)
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.
All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com
with any questions (click here for other