VHLL
VHLL Gene: The Gatekeeper of Oxygen Balance and Tumor Suppression
Description
The von Hippel-Lindau (VHL) gene is a crucial gene that plays a vital role in regulating oxygen balance and suppressing tumor growth. It is located on chromosome 3p25 and encodes the VHL protein, which is a member of the E3 ubiquitin ligase complex.
Associated Diseases
Mutations or deletions in the VHLL gene have been linked to several diseases, primarily involving the development of tumors and cysts:
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Von Hippel-Lindau Disease: VHL disease is an inherited condition characterized by the formation of benign and malignant tumors in multiple organs, including the kidneys, pancreas, central nervous system, and retina.
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Renal Cell Carcinoma: VHL mutations are the most common genetic cause of renal cell carcinoma (RCC), a type of kidney cancer.
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Pancreatic Neuroendocrine Tumors: Mutations in the VHLL gene increase the risk of developing pancreatic neuroendocrine tumors (PNETs), which are rare but aggressive tumors.
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Pheochromocytoma and Paraganglioma: VHL mutations are associated with the formation of pheochromocytoma and paraganglioma, tumors of the adrenal glands and paraganglia, respectively.
Did you Know ?
Approximately 80% of renal cell carcinomas have been found to be associated with mutations in the VHLL gene. This highlights the significant role of VHL in the regulation of cell growth and tumor suppression in the kidney.
