Stains & CD markers
von Hippel Lindau (VHL)
Copyright: 2003-2024, PathologyOutlines.com, Inc.
von Hippel Lindau (VHL)
Author: Nat Pernick, M.D.
Last author update: 1 June 2005
Last staff update: 11 November 2024 (update in progress)
Copyright: 2003-2024, PathologyOutlines.com, Inc.
Table of Contents
Definition / generalCite this page: Pernick N. von Hippel Lindau (VHL). PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainsvhl.html. Accessed December 21st, 2024.
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
