TSC1 - Wikipedia
TSC1, TSC2 and TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor.
Tuberous sclerosis - Symptoms and causes - Mayo Clinic
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.
TSC1 gene - MedlinePlus
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 Gene - GeneCards | TSC1 Protein | TSC1 Antibody
Oct 2, 2024 · This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity.
Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf
Jul 13, 1999 · Hamartin (protein encoded by TSC1) and tuberin (protein encoded by TSC2) form heterodimers that act to downregulate cell growth in response to the insulin signaling pathway in cells. When either hamartin or tuberin is not produced, cell growth is constantly turned on resulting in cell overgrowth.
Tuberous Sclerosis - StatPearls - NCBI Bookshelf
May 27, 2024 · Tuberous sclerosis complex (TSC) is a genetic disorder inherited in an autosomal dominant fashion and is characterized by an increased predisposition to hamartoma formation. [1] TSC results from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders, including epilepsy and intellectual disability. [2]
Role of TSC1 in physiology and diseases - Springer
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.
Role of TSC1 in physiology and diseases - PubMed
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 complex - Nature Reviews Disease Primers
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 complex - MedlinePlus
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to significant health problems.