What is hamartin?

Hamartin is a 1,164-amino-acid/130 KDa tumor suppressor protein expressed in most human tissues (Plank et al., 1999; Johnson et al., 2001). It is hydrophilic and has transmembrane domains at amino acids 127–144 and within its coiled-coil region at residues 719–998 (Nellist et al., 1999).

Where is hamartin Localised?

Hamartin is localized to the membrane/particulate (P100) fraction of cultured cells. The P100 localization is unchanged in the Eker cells. Finally, we show that at endogenous expression levels, hamartin has a punctate pattern of immunofluorescence in the cytoplasm.

What is the TSC1 gene?

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.

What does hamartin tuberin do?

The TSC1 (hamartin) and TSC2 (tuberin) proteins function as a heterodimer that integrates diverse extracellular and intracellular signals to regulate the two TOR complexes (TORC1 and TORC2; mTORC1 and mTORC2 in mammals) and the processes of cell growth and proliferation.

How do you test for tuberous sclerosis?

Tests for tuberous sclerosis

  1. an eye examination – to check for eye tumours.
  2. a skin examination – to look for abnormal growths or patches of pale or thickened skin.
  3. an MRI scan – to detect tumours in the brain or kidneys.
  4. a CT scan or ultrasound scan – to detect tumours in the kidneys, heart or lungs.

What does Hamartin Tuberin do?

How do you get tuberous sclerosis?

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.

How does TSC2 inhibit mTOR?

e, TSC1–TSC2 inhibits phosphorylation of mTOR. Cotransfection of TSC1–TSC2 inhibits phosphorylation of Ser 2448 on mTOR, as detected by immunoblotting with an anti-phospho-mTOR antibody (left). A reduction of endogenous TSC2 by RNAi-C increased phosphorylation of mTOR (right).