TSC2 By Samantha Lee. What is it?  Tuberin  TSC1/hamartin  Tumor suppressor (LOH)  41 small exons, 45 kb DNA  5.5 kb mRNA  196 kD.

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Presentation transcript:

TSC2 By Samantha Lee

What is it?  Tuberin  TSC1/hamartin  Tumor suppressor (LOH)  41 small exons, 45 kb DNA  5.5 kb mRNA  196 kD

How does it work, downstream?

How does it work, upstream? Harvard School of Public Health

How was is discovered?  Positional cloning  1993  Key Nonsense Missense Frameshift Splice Site Hung et al. BMC Medical Genetics 2006

What goes wrong? Nature Publishing Group

What are the model organisms?  Drosophila  Eker Rats  Fission Yeast Rare Disease Clinical Research Network

What goes wrong in humans? Neurological Medicine Pocketbook

Is there treatment?