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VHL and Von Hippel–Lindau Disease 

VHL and Von Hippel–Lindau Disease
Chapter:
VHL and Von Hippel–Lindau Disease
Author(s):

Eamonn R. Maher

DOI:
10.1093/med/9780199934522.003.0163
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date: 04 March 2021

Von Hippel–Lindau (VHL) disease is an autosomal dominant familial cancer syndrome caused by germline mutations in the VHL tumor-suppressor gene. VHL is widely expressed in fetal and adult tissues, and the pattern of VHL mRNA expression in the fetal kidney is consistent with a role in normal renal tubular development and differentiation. Mouse models of VHL disease have demonstrated that VHL expression is critical for normal extraembryonic vascular development. pVHL is a component of an E2 ubiquitin ligase complex that regulates expression of the HIF (hypoxia inducible factor) transcription factors such that loss of pVHL is associated with HIF-induced activation of hypoxia response genes (reviewed in Bausch et al 2013).

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