What is the normal function of the VHL gene?
The VHL gene is a tumor suppressor gene, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The VHL gene provides instructions for making a protein that functions as part of a complex (a group of proteins that work together) called the VCB-CUL2 complex. This complex targets other proteins to be broken down (degraded) by the cell when they are no longer needed. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. The VCB-CUL2 complex targets large proteins, particularly a protein called hypoxia-inducible factor (HIF), to be broken down within cells. HIF controls several important genes involved in cell division and the formation of new blood vessels. The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. This protein is also involved in the formation of the extracellular matrix, which
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