There are multiple definitions:
Von Hippel-Lindau [protein](English)
- a component of the E3 ubiquitin ligase complex, which leads to the polyubiquitination and subsequent proteasomal degradation of the a subunit. HIF-1a is also hydroxylated by factor inhibiting HIF (FIH) at a C-terminal transcriptional activation domain asparagine residue
- FIH, HIF, PHD, pVHL
- Proteins / proteomics, Transcription
- https://doi.org/10.1113/JP280572
von Hippel-Lindau [syndrome/disease](English)
- a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, clear cell renal carcinomas, pheochromocytomas, pancreatic islet cell tumors, endolymphatic sac tumors, and benign cysts affecting a variety of organs. Caused by germline mutations of the von Hippel-Lindau tumor suppressor gene located on chromosome 3p25. Tumor development in this setting is due to inactivation or loss of the remaining wild-type allele in a susceptible cell. The highly vascular nature of VHL-associated neoplasms can be understood in light of the finding that the VHL gene product (pVHL) inhibits the accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor, under normoxic conditions
- mRNA, pVHL, VEGF
- Congenital disorders, Vascular disease, Oncology, Ophthalmology, Brain (dys)function
- https://doi.org…199711000-00001