| Gene Symbol | TSC1 |
| Full Name | Tuberous Sclerosis Complex 1 |
| Function | It contains several functional domains including a hamartin elbow domain (HED), a transmembrane region, and a conserved tuberous sclerosis complex domain (TSC-TBD)[1]. |
| Primary Expression | neurons and plays important roles in synaptic plasticity, dendritic spine morphology, and neuronal connectivity |
| Subcellular Localization | the cytoplasm and plasma membrane. It contains several functional domains including a hamartin elbow domain (HED), a tra |
| Molecular Weight | 130 kDa |
| Amino Acids | 164 aa |
| Pathways | mTOR Signaling, mTOR, mtor |
| Ensembl ID | ENSG00000115159 |
| GeneCards | TSC1 |
| Human Protein Atlas | TSC1 |
| Cortical tubers | Benign hamartomas in the cerebral cortex |
| Facial angiofibromas | Adenoma sebaceum |
| Hypomelanotic macules | Ash-leaf spots |
| Shagreen patches | Connective tissue nevi |
| Associated Diseases | Aging, Als, Cardiovascular, epilepsy, Ms, Tuberous sclerosis complex |
| Known Drugs/Compounds | rapamycin |
| Interactions | Akt, AKT, AKT1, AKT3, AMPK, AND |
| KG Connections | 208 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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