What are the TSC genes and gene products?
TSC1 and TSC2 are two distinct genes located on two different chromosomes. Each of these genes gives rise to a protein called hamartin and tuberin, respectively. Within a cell, these two proteins bind to one another and work together. That is why a mutation in the tuberin gene and a mutation in the hamartin gene results in a similar disease in people. The loss of either tuberin or hamartin results in the formation of numerous benign tumors (hamartomas). Thus, the TSC1 and TSC2 genes are tumor suppressor genes. Until recently, the precise functions of these two genes were unclear. Research published since 2002 has provided evidence that tuberin and hamartin are involved in a key pathway in the cell that regulates protein synthesis and cell size. How do cells naturally regulate growth? One of the ways that cells use to regulate their growth is by controlling the rate of protein synthesis. A protein called mTOR was identified as one of the master regulators of cell growth. mTOR, in turn,
