What is hamartin and tuberin?

What is hamartin and tuberin?

Tumour suppressors hamartin and tuberin, encoded by tuberous sclerosis complex 1(TSC1) and TSC2 genes, respectively, are critical regulators of cell growth and proliferation. Mutations in TSC1 and TSC2 genes are the cause of an autosomal dominant disorder known as tuberous sclerosis complex (TSC).

What is the TSC2 gene?

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

What is hamartin?

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

How does TSC2 inhibit RHEB?

A proposed model of Rheb functions downstream of TSC1/TSC2 and upstream of mTOR. TSC2 acts as a GAP to inactivate Rheb by directly stimulating GTP hydrolysis. Rheb stimulates mTOR. Nutrient and cellular energy status signals through Rheb, whereas osmotic stress signals independently of Rheb.

What does hamartin protein 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.

Where is 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 does the TSC1 gene do?

Is tuberous sclerosis complex autosomal dominant or recessive?

Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development.

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.

What is the function of Tuberin in prokaryotes?

Tuberin stabilizes levels of p27KIP1, a cyclin-dependent kinase inhibitor, and thus inhibits cell-cycle progression. Tuberin also has Rheb GAP (GTPase-activating protein) activity, which leads to inactivation of Rheb by conversion of Rheb-GTP to Rheb-GDP.

What is the function of Tuberin and TSC1?

“The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.” Cited for: INTERACTION WITH RABEP1. “Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.”

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.

What is targettuberin sensitive to?

Tuberin is sensitive to at least two types of signals that are important for growth: mitogens and energy status.