Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. [5] TSC1 functions as a co-chaperone which inhibits the ATPase activity of the chaperone Hsp90 (heat shock protein-90) and decelerates its chaperone cycle.

Dec 6, 2022 · Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought to prevent cells from growing too fast or in an out-of-control way.

Mar 30, 2025 · TSC1 (TSC Complex Subunit 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis 1 and Lymphangioleiomyomatosis. Among its related pathways are MTOR signalling and Gene expression (Transcription). Gene Ontology (GO) annotations related to this gene include binding and protein-folding chaperone binding.

The TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and division (proliferation) and cell size.

TSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and proliferation, survival, autophagy and cilia development by co-operating with a variety of regulatory molecules.

Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available.

TSC1 and TSC2 are the tumour-suppressor genes mutated in the tumour syndrome TSC (tuberous sclerosis complex). Their gene products form a complex that has become the focus of many signal transduction researchers.

May 26, 2016 · Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The...

Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex.

The TSC1 gene encodes hamartin, a protein that interacts with tuberin (TSC2; 191092) to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (MTOR; 601231) (Inoki et al., 2002).