Description
Product Characteristics:
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].
Subcellular location: Cytoplasm, Nucleus, Cell membrane
Synonyms: Von Hippel Lindau, von Hippel-Lindau syndrome protein homolog, Hippel-Lindau disease tumor suppressor VHL, von Hippel-Lindau tumor suppressor isoform 1, VHL, HRCA1, RCA1, VHL1, von Hippel-Lindau disease tumor suppressor isoform 2,pVHL, pVHL, G7 protein, Elongin binding protein, Protein G7, VHL 1, VHL_HUMAN,VHL1, VHLH, Von Hippel Lindau disease tumor suppressor, von Hippel Lindau syndrome, von Hippel Lindau tumor suppressor, Von Hippel-Lindau disease tumor suppressor.
Target Information: 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]