What does the VHL protein do?
The VHL protein functions as a subunit of a multiprotein ubiquitin ligase that negatively regulates expression of a large collection of hypoxia-inducible genes controlled by hypoxia-inducible transcription factors (HIFs).
What is VHL gene mutation?
Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein.
Is VHL an E3 ligase?
The main action of the VHL protein is thought to be its E3 ubiquitin ligase activity that results in specific target proteins being ‘marked’ for degradation.
Is VHL a transcription factor?
VHL substrate transcription factor ZHX2 as an oncogenic driver in clear cell renal cell carcinoma. Science.
What is Von Hippel-Lindau disease?
VHL disease is an inherited disorder that causes tumors and cysts to grow in certain areas of the body, including the central nervous system (including the brainstem, cerebellum, and spinal cord), retina, endolymphatic sac in the ear, adrenal glands, pancreas, kidneys, epididymis (in males), and broad ligament (in …
Is VHL a disability?
Malignant VHL that is resistant to treatment, is inoperable, or which recurs following initial treatment, can qualify you for disability benefits. Benign forms of the disease can as well, if they result in such severe limitations that they prevent you from working for a period of one year or are expected to do so.
Why is VHL a tumor suppressor?
The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. Based on this function, the VHL protein is classified as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
How do you treat von Hippel-Lindau disease?
Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
How do you test for von Hippel-Lindau?
The only way to diagnose VHL is with genetic testing. Nearly all people with VHL will be found to have a genetic mutation in their VHL gene once tested. There are no universal guidelines regarding who should be screened for VHL.