Aliases for VHL Gene
External Ids for VHL Gene
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for VHL Gene
VHL (Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with VHL include erythrocytosis, familial, 2 and vhl-related pheochromocytoma. Among its related pathways are Class I MHC mediated antigen processing and presentation and Pathways in cancer. GO annotations related to this gene include transcription factor binding and enzyme binding. An important paralog of this gene is VHLL.
UniProtKB/Swiss-Prot for VHL Gene
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.