{"symbol":"VHL","synonyms":["RCA1","PVHL","VHL1","HRCA1"],"name":"von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase","description":"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. [provided by RefSeq, Jun 2022]","ncbiEntrezGeneId":7428,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7428","proteins":[{"symbol":"VHL_HUMAN","href":"/api/1.0/protein/VHL_HUMAN"}],"hgncRootFamilies":[]}