Stains & CD markers
von Hippel Lindau (VHL)

Last author update: 1 June 2005
Last staff update: 12 August 2021

Copyright: 2003-2023,, Inc.

Nat Pernick, M.D.
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Table of Contents
Definition / general
Cite this page: Pernick N. von Hippel Lindau (VHL). website. Accessed May 29th, 2023.
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
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