VHL human

The von Hippel-Lindau tumor suppressor gene is mutated in families with von Hippel-Lindau disease and encodes a protein (VHL) of 213 amino acids with an acidic pentapeptide motif in the N-terminus. Mutations in the VHL gene result in constitutive expression of many hypoxia-induced genes, at least in part because of increases in the cellular level of hypoxia-inducible transcription factor HIF-1a.

von Hippel-Lindau (VHL) disease is a hereditary cancer with a predilection for the central nervous system and retina. The von Hippel-Lindau tumor suppressor gene is mutated in families with von Hippel-Lindau disease and encodes a protein (VHL) of 213 amino acids with an acidic pentapeptide motif in the N-terminus. Mutations in the VHL gene result in constitutive expression of many hypoxia-induced genes, at least in part because of increases in the cellular level of hypoxia-inducible transcription factor HIF-1a. VHL protein binds to elongin B, elongin C, and Cul2 to form a stable complex that targets hypoxia inducible factors (HIFs) for degradation and transcriptional regulation. In addition, VHL protein has also been shown to interact with specific protein kinase C isoforms, histone deacetylases and HIF-1 inhibitor (HIF-1).

Clear and colorless frozen liquid solution

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