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tsc1-tsc2
TSC1-TSC2
TSC1-TSC2 complex (hamartin-tuberin) is a GTPase-activating protein for Rheb; LOF → mTORC1 hyperactivation → S6K1/4EBP1 → hamartoma growth; germline TSC1/TSC2 = tuberous sclerosis complex; everolimus FDA-approved for TSC-associated renal angiomyolipoma, SEGA, and LAM.
Entry Metadata
| Field | Value |
|---|---|
| ID | tsc1-tsc2 |
| Name | TSC1-TSC2 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-1356. · PubMed 17005952
- Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254. · PubMed 24053982