Description
TSC1 (Tuberous Sclerosis 1), also called Hamartin, is a human protein and gene. As part of a comprehensive strategy to identify the gene mutant in tuberous sclerosis-1, van Slegtenhorst et al.(1997) developed an overlapping contig of clones from the 1.4-Mb TSC1 region on chromosome 9. Benvenuto et al.(2000) showed that overexpression of the TSC1 gene in rat fibroblasts inhibits growth and causes changes in cell morphology. Van Slegtenhorst et al.(1998) showed that hamartin and tuberin associate physically in vivo, however, and that the interaction is mediated by predicted coiled-coil domains