VHLL Products

Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that the selectivelyubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediateddegradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog thatlacks one of two key domains necessary for VHL function. It binds HIF alpha but fails to recruit the E3 ubiquitinligase complex, and therefore functions as a dominant-negative VHL and a protector of HIF alpha. This gene isintronless and predominantly expressed in the placenta, and may contribute to the regulation of oxygen homeostasis andneovascularization during placenta development. (provided by RefSeq)