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von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

Human molecular genetics - 1 May 2001

Hoffman M A, Ohh M, Yang H, Klco J M, Ivan M, Kaelin W G

Abstract excerpt

von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germ line mutation of the von Hippel-Lindau tumor suppressor gene (VHL). Tumors observed in this disorder include retinal and central nervous system hemangioblastomas, clear cell renal carcinomas and pheochromocytomas. The VHL gene product, pVHL, is a component of a ubiquitin ligase which targets the transcription factor known as...

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PMID: 11331612
DOI: 10.1093/hmg/10.10.1019

Genes

VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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