Gene TSC1
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Also known as
Tuberous sclerosis 1, Hamartin, TSCOverview
TSC1 (Tuberous Sclerosis Complex 1) encodes the protein hamartin, which forms a complex with tuberin (encoded by TSC2) to negatively regulate the mTOR signaling pathway. This pathway is crucial for controlling cell growth, proliferation, and metabolism. The TSC1-TSC2 complex functions as a tumor suppressor by preventing excessive cell growth and division.Mutations in TSC1 cause tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by the growth of benign tumors (hamartomas) in multiple organs including the brain, skin, kidneys, heart, and lungs. Clinical manifestations can include seizures, intellectual disability, autism spectrum disorder, skin abnormalities, and renal complications. The severity of TSC can vary widely, even among individuals with the same mutation.
Understanding TSC1 carrier status is important for family planning and prenatal counseling. Early diagnosis and monitoring can lead to better management of TSC-related complications through targeted therapies, including mTOR inhibitors like everolimus and sirolimus, which have shown promise in treating TSC-associated tumors and seizures.