Species Human Entrez 7249 | Human Mouse Ensembl ENSG00000103197 | |
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Aliases TSC2, LAM, PPP1R160, TSC4, tuberous sclerosis 2 External IDs MGI: 102548 HomoloGene: 462 GeneCards: TSC2 | ||
Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.
Contents
Function
Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein 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. Together with tuberous sclerosis, mutations in TSC2 can cause Lymphangioleiomyomatosis, a disease caused by the enlargement of tissue in the lungs, creating cysts and tumours and causing difficulty breathing. Because Tuberin regulates cell size, along with the protein Hamartin coded by the gene TSC1, mutations to these genes may prevent the control of cell growth in the lungs of individuals.
Interactions
TSC2 functions within a multi-protein complex knowns as the TSC complex which consists of the core proteins TSC2, TSC1, and TBC1D7.
TSC2 has been reported to interact with several other proteins that are not a part of the TSC complex including: