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Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the  TSC1  or  TSC2  tumour suppressor gene. The disease is characterized by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction and dermatological abnormalities.  TSC2  encodes tuberin, a putative GTPase activating protein for rap1 and rab5. The  TSC1  gene was recently identified and codes for hamartin, a novel protein with no significant homology to tuberin or any other known vertebrate protein. Here, we show that hamartin and tuberin associate physically  in vivo  and that the interaction is mediated by predicted coiled-coil domains. Our data suggest that hamartin and tuberin function in the same complex rather than in separate pathways.

Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products