Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms.
In the case of stress (DNA damage, hypoxia) or low energy availability, it is activated and regulates protein synthesis down.
[1] TSC is a rare genetic disease causing benign tumours to grow in the brain and on other vital organs.
A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease.
[4] The activity of the TSC1-TSC2 complex is regulated by phosphorylation of different Ser and Thr sites mediated by the following Pathways: The TSC1 gene is located on chromosome 9q34 and encodes the 130 kDa protein hamartin containing 1163 amino acids.