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tuberous sclerosis 2
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq]
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|
|
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|---|---|---|---|
| Pituitary gland |
100
|
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| Thyroid gland |
99
|
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| Caudate nucleus |
96
|
||
| Uterus |
95
|
||
| Preoptic area |
94
|
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| Ganglion of cranial … |
94
|
|
|
|
||
|---|---|---|---|
| Bucladesine Sodium |
100
|
||
| Parbendazole |
98
|
||
| Octyl Phenol |
94
|
||
| C14209 |
94
|
||
| Fusarinic Acid |
90
|
||
| Resveratrol |
82
|
Individual Studies |
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Authors: Dan Ehninger, Sangyeul Han, Carrie Shilyansky, Yu Zhou, Weidong Li, David J Kwiatkowski, Vijaya Ramesh, Alcino J Silva
Nature medicine 2008 AugAuthors: Jian Hu, Sima Zacharek, Yizhou Joseph He, Hyun Lee, Stuart Shumway, Robert J Duronio, Yue Xiong
Genes & development 2008 Apr 1Thought leaders and organizations working on research involving TSC2.
conditions: Tuberous Sclerosis ; Lymphangioleiomyomatosis
interventions: sirolimus
conditions: Polycystic Kidney
interventions: Sirolimus