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ABclonal Technology Von Hippel Lindau/VHL
Supplier: ABclonal Technology A23239100UL
This gene encodes a component of a ubiquitination complex The encoded 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 In addition to oxygen-related gene expression this protein plays a role in many other cellular processes including cilia formation cytokine signaling regulation of senescence and formation of the extracellular matrix Variants of this gene are associated with von Hippel-Lindau syndrome pheochromocytoma erythrocytosis renal cell carcinoma and cerebellar hemangioblastoma
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