von Hippel Lindau (VHL)

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

Revised: 30 November 2015, last major update June 2005

Copyright: (c) 2003-2015,, Inc.

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Table of Contents
Definition / general
Cite this page: von Hippel Lindau (VHL). website. Accessed January 22nd, 2019.
Definition / general
  • 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