| Protein Name | von Hippel-Lindau tumor suppressor |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7428 |
| Gene Symbol | VHL |
| UniProt | P40337 (VHL_HUMAN), A0A024R2F2 (A0A024R2F2_HUMAN), A0A0S2Z4K1 (A0A0S2Z4K1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
215
Total Number of Articles : 383 |
Description |
von Hippel-Lindau tumor suppressor |
| Gene Summary |
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] |
| synonyms |
|
| Properties | |