Tuberin
Sign in to saveAlso known as tuberous sclerosis 2 protein, TSC2, protein phosphatase 1, regulatory subunit 160
Protein in Homo sapiens
Protein · UniProt
Tuberin
- Gene
- TSC2
- Organism
- Homo sapiens (Human)
- Length
- 1,807 aa
- Molecular mass
- 200,608 Da
- Evidence
- 1: Evidence at protein level
Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of…
Swiss-Prot (reviewed) · via UniProt
Research
94 papers- How autophagy controls the intestinal epithelial barrier.Autophagy · 2022
- Buddleoside alleviates nonalcoholic steatohepatitis by targeting the AMPK-TFEB signaling pathway.Autophagy · 2025
- Emerging dimensions of autophagy in melanoma.Autophagy · 2024
- ATM loss disrupts the autophagy-lysosomal pathway.Autophagy · 2021
- Full-coverage regulations of autophagy by ROS: from induction to maturation.Autophagy · 2022
via PubMed
Clinical Trials
4 registered- PHASE3COMPLETEDEfficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)Novartis Pharmaceuticals · NCT00790400
- PHASE3TERMINATEDAssessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled SeizuresJazz Pharmaceuticals · NCT04485104
- ENROLLING_BY_INVITATIONEarly Check: Expanded Screening in NewbornsRTI International · NCT03655223
- PHASE2UNKNOWNPhase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)Aadi Bioscience, Inc. · NCT05103358
Article · Deutsch
Tuberin (TSC2) ist ein Protein in Säugetierzellen, das als Tumorsuppressor wirkt. Für diese Funktion ist die Bildung des Hamartin-Tuberin-Komplexes notwendig, die durch verschiedene Defekte gestört werden kann, im Mensch beispielsweise durch Mutation des TSC2-Gens. Unfähigkeit zur Bildung des Komplexes ist die Ursache für Tuberöse Sklerose, eine Erbkrankheit. Tuberin enthält die RAP-GAP-Domäne, die für die Aktivierung der GTPasen RHEB, RAP1A und RAB5 durch den TSC-Komplex ursächlich ist.
Abstract from DBpedia / Wikipedia · CC BY-SA