What are TSC1 and TSC2?

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.

What does the TSC1 gene do?

The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and size.

Is TSC2 worse than TSC1?

In general, TSC2 disease was more severe than TSC1, with more subependymal giant cell astrocytomas and angiomyolipomas, higher incidence of pharmacoresistant epileptic seizures, and more severe neuropsychiatric disorders.

How does TSC2 inhibit mTOR?

TSC1–TSC2 blocks phosphorylation of mTOR targets. Nutrient stimulation activates S6K and inactivates 4E-BP1 (ref. 25). Recent studies have shown that nutrient-induced phosphorylation of S6K and 4E-BP1 is blocked by rapamycin, indicating a major role for mTOR in nutrient signalling.

Is TSC2 a GTPase?

Here we report that TSC2 is a GTPase-activating protein (GAP) toward Rheb, a Ras family GTPase. Rheb stimulates phosphorylation of S6K and 4EBP1. Rheb stimulates the phosphorylation of mTOR and plays an essential role in regulation of S6K and 4EBP1 in response to nutrients and cellular energy status.

What does TSC1 stand for?

Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene.

Does TSC inhibit mTOR?

Currently, everolimus is the only mTOR inhibitor approved for the treatment of TSC. It has been approved in various countries for the treatment of patients aged ≥3 years with TSC-related SEGA who require therapeutic intervention, but are not candidates for curative surgical resection [13, 14].

What do gap proteins do?

GTPase-activating proteins or GTPase-accelerating proteins (GAPs) are a family of regulatory proteins whose members can bind to activated G proteins and stimulate their GTPase activity, with the result of terminating the signaling event. GAP’s role in this function is to turn the G protein’s activity off.

How long can you live with tuberous sclerosis?

This found that 5% of the TSC group had died, with an average age of 57 years. However there were only small numbers of older people with TSC in the study group. A much older study, from the Mayo Clinic in 1991, examined records from their 355 patients with TSC.

What are somatic mutations in TSC1 and TSC2?

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia NCBI Skip to main content Skip to navigation Resources How To About NCBI Accesskeys My NCBISign in to NCBISign Out PMC US National Library of Medicine National Institutes of Health

What does TSC stand for in medical terms?

Tuberous sclerosis — also called tuberous sclerosis complex (TSC) — is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

Where can I find articles on TSC1 and TSC2?

3Brain Korea 21 Plus Project for Medical Sciences, Graduate Program of Nano Science and Technology, Department of Pharmacology, Yonsei University College of Medicine, Seoul 03722, South Korea Find articles by Ramu Gopalappa Se Hoon Kim

Where does tuberous sclerosis complex ( TSC ) usually occur?

TSC tumors occur most commonly in the brain, kidneys, heart, lungs, and skin. Most of these tumors are benign but a rare few develop malignancy (cancer cells). Brain involvement in TSC usually involves seizures of many types, developmental delays such as learning disabilities, and behavior problems and autism.

What are TSC1 and TSC2? 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. What does the TSC1 gene do? The TSC1…