Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

M van Slegtenhorst
1998 Human Molecular Genetics  
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
more » ... nown 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.
doi:10.1093/hmg/7.6.1053 pmid:9580671 fatcat:nsrduxcjhbgr3adtwjemmhbwmq