Disease relevance of Vhl

• von Hippel-Lindau disease is a hereditary cancer syndrome [1].
• Mutations of the von Hippel-Lindau (VHL) tumor suppressor gene predispose individuals to a variety of human tumors, including renal cell carcinoma, hemangioblastoma of the central nervous system, and pheochromocytoma [2].

High impact information on Vhl

• Elongin B is found in cells as a subunit of the heterodimeric Elongin BC complex, which was originally identified as a positive regulator of RNA polymerase II elongation factor Elongin A and subsequently as a component of the multiprotein von Hippel-Lindau tumor suppressor and suppressor of cytokine signaling complexes [3].
• Reduced d-VHL activity (using RNA interference methodology) caused breakage of the main vasculature accompanied by excessive looping of smaller branches, whereas over-expression caused a general lack of vasculature [1].
• During embryogenesis, d-VHL is expressed in the developing tracheal regions where tube outgrowth no longer occurs [1].
• The recombinant yeast Elongin C protein interacts with both mammalian Elongin A and VHL tumor suppressor protein [4].
• The Elongin complex is a potential target for regulation by the von Hippel-Lindau (VHL) tumor suppressor protein, which is capable of binding stably to the Elongin BC complex and preventing it from activating Elongin A [4].

Associations of Vhl with chemical compounds

• Firstly, HIFalpha undergoes trans -4-hydroxylation at two conserved proline residues that enable its recognition by the von Hippel-Lindau tumour-suppressor protein [5].

References