The<unk>  protein is a protein whose inactivation is associated with<unk><unk><unk>  disease.<unk><unk><unk>  syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign<unk> s of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
The disease is caused by mutations of the VHL gene on the short arm of the third chromosome (3p26-p25).
Von Hippel-Lindau tumor suppressor
TORCH complex
Proto-oncogene
Myeloma protein
Abl gene
Ankyrin repeat
SUMO protein
Tumor suppressor gene