Tuberin gene is mapped on chromosome 16p13.3 containing 1784 amino acids with different alternative splicing transcript variants isoforms. It controls cell growth by negatively regulating the S6 kinase 1 and the eukaryotic initiation factor binding protein within nutrient deprived cells.
Tuberin is thought to be a tumor suppressor that able to stimulate specific GTPases which associates with hamartin in cytosolic complex functions as a chaperone drawn in microtubule-mediated transport due to unregulated mTOR signaling. It implicates in tumor suppressor complex as an inhibitor of mTOR revealing that the development of tumor to individual with tuberous sclerosis complex might result from the abnormally high levels of mTOR-mediated signaling.
Tuberin gene mutation is implicated intuberous sclerosis complex, an autosomal dominant multi-system disorders that affects kidneys, brain, heart and skin which is typified by overgrowth of tissues that occurs predominantly in normal organ as well as in the developmental irregularities of tissue combination manifested by learning difficulties, behavioral problems, skin lesions and epilepsy.
Gene name: TSC2
Protein name: Tuberin
• TSC4 (formerly)