Von Hippel-Lindau tumor suppressor

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von Hippel-Lindau tumor suppressor
Identifiers
Symbol(s)	VHL
Entrez	7428
OMIM	608537
RefSeq	NM_000551
UniProt	P40337
Other data
Locus	Chr. 3 p25.3

The Von Hippel-Lindau tumor suppressor protein is a protein whose inactivation is associated with Von Hippel-Lindau disease.

The disease is caused by mutations of the VHL gene on the short arm of the third chromosome (3p26-p25). The resultant protein is produced in two forms, an 18 kDa and a 30 kDa protein that functions as a tumor suppressor gene. The main action of the VHL protein is thought to be its E3 ubiquitin ligase activity that results in specific target proteins being 'marked' for degradation. The most researched of these targets is hypoxia inducible factor 1a (HIF1a), a transcription factor that induces the expression of a number of angiogenesis related factors. It stands to reason that the loss of VHL protein activity results in an increased amount of HIF1a, and thus increased levels of angiongenic factors, including VEGF and PDGF. In turn, this leads to unregulated blood vessel growth, one of the prerequesites of a tumour.

[edit] External links

• MeSH Von+Hippel-Lindau+Tumor+Suppressor+Protein
• Esteban M, Harten S, Tran M, Maxwell P (2006). "Formation of primary cilia in the renal epithelium is regulated by the von hippel-lindau tumor suppressor protein.". J Am Soc Nephrol 17 (7): 1801-6. PMID 16775032.
• Takahashi K, Iida K, Okimura Y, Takahashi Y, Naito J, Nishikawa S, Kadowaki S, Iguchi G, Kaji H, Chihara K (2006). "A novel mutation in the von Hippel-Lindau tumor suppressor gene identified in a Japanese family with pheochromocytoma and hepatic hemangioma.". Intern Med 45 (5): 265-9. PMID 16595991.
• Hoebeeck J, Vandesompele J, Nilsson H, De Preter K, Van Roy N, De Smet E, Yigit N, De Paepe A, Laureys G, Påhlman S, Speleman F (2006). "The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma.". Int J Cancer 119 (3): 624-9. PMID 16506218.