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DeCS
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Descriptor English:
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Tuberous Sclerosis Complex 2 Protein
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Descriptor Spanish:
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Proteína 2 del Complejo de la Esclerosis Tuberosa
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Descriptor Portuguese:
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Proteína 2 do Complexo Esclerose Tuberosa
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Synonyms English:
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Tuberin
Tuberous Sclerosis 2 Protein
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Tree Number:
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D12.644.360.938
D12.776.476.935
D12.776.624.776.769
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Definition English:
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An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS. |
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History Note English:
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2019 (1994)
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Allowable Qualifiers English:
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Record Number:
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57503
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Unique Identifier:
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D000077005
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Occurrence in VHL:
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Similar:
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DeCS
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