Tuberous Sclerosis Protein 2 (TSC2)

Tuberous Sclerosis Protein 2 associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms of the protein.One gene, designated TSC2, was interrupted by all 5 PFGE deletions, and closer examination revealed several intragenic mutations, including 1 de novo deletion. In this case, Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5-kb TSC2 transcript was found to be widely expressed, and its protein product, designated tuberin, to have a region of homology to the GTPase-activating protein GAP3.