What does TSC1 and TSC2 do?

What does TSC1 and TSC2 do?

Regulation. The TSC1 and TSC2 proteins form a heterodimeric complex which acts as an important integrator of different signaling pathways controlling mTOR signaling, by regulating especially mTORC1 activity.

What does TSC1 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.

What is the difference between TSC1 and TSC2?

TSC is caused by a mutation in the DNA of either the TSC1 or TSC2 gene. The TSC1 gene is found on chromosome 9 and codes for the protein called hamartin. The TSC2 gene is found on chromosome 16 and codes for the protein called tuberin.

What protein is affected by tuberous sclerosis?

What causes Tuberous Sclerosis? TSC is caused by defects, or mutations, on two genes—TSC1 and TSC2. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene is on chromosome 9 and produces a protein called hamartin.

What chromosome is TSC1 on?

“Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34”.

Which is worse TSC1 or TSC2?

Nonetheless, patients with TSC2 mutations have a worse overall prognosis than those with TSC1 mutations [13], and the conditional Tsc2 knockout mouse model has a more severe phenotype than the conditional Tsc1 knockout in the same conditional genetic background [14].

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.

What gene is affected by tuberous sclerosis?

Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.

What type of mutation is tuberous sclerosis complex?

Tuberous sclerosis results from alterations (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic or de novo) gene mutations, with no family history of the disease.

Is RHEB a Gtpase?

RHEB also known as Ras homolog enriched in brain (RHEB) is a GTP-binding protein that is ubiquitously expressed in humans and other mammals. The protein is largely involved in the mTOR pathway and the regulation of the cell cycle.

How do you get tuberous?

Tuberous sclerosis is a genetic condition. That means it is caused a change in your genes, the elements that make your body. Sometimes, it can be passed down through a family. If one parent has it, every child born to that parent has up to a 50% chance of inheriting it, too.

What is the function of the TSC1 and TSC2 proteins?

The TSC1 and TSC2 proteins form a heterodimeric complex which acts as an important integrator of different signaling pathways controlling mTOR signaling, by regulating especially mTORC1 activity.

Does Akt-mediated phosphorylation of TSC2 interact with TSC1?

Furthermore, two studies in mammalian cells found that Akt-mediated phosphorylation of TSC2 had no effect on the association between TSC1 and TSC2 [21,22]. Two additional studies have found that TSC2 phosphorylation downstream of Akt targets both TSC1 and TSC2 for degradation [82,86].

Does the TSC1–TSC2 complex specifically inhibit mTORC1 activation?

It is now recognized that the primary function of the TSC1–TSC2 complex is as a critical negative regulator of mTORC1 activation. The Drosophila genetic experiments described above demonstrated that the TSC1–TSC2 complex inhibits S6K activation, suggesting that the complex might specifically inhibit TORC1 signalling.

What is tuberous sclerosis protein 1 and 2?

Tuberous sclerosis protein. Jump to navigation Jump to search. 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.