Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by the presence of multiple hamartomas in almost every organ, most notably in the skin, brain, heart, kidneys, liver, and lungs . The classic syndromes of TSC are seizures, mental retardation, and cutaneous angiofibromas . Two tumor suppressor genes, Tsc1 and Tsc2, have been identified for pathogenesis of TSC. Tscl is located on chromosome 9q34 and encodes for the protein hamartin (130 kDa). Tsc2 is located on chromosome 16pl3.3 and encodes for the protein tuberin (180 kDa).
Yadi Wu、Binhua P Zhou
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Department of Pharmacology and Toxicology and Sealy Center for Cancer Cell Biology, University of Texas Medical Branch, Galveston, TX 77555-1048, USA
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