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DeCS
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Descriptor English:
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Tuberous Sclerosis Complex 1 Protein
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Descriptor Spanish:
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proteína 1 del complejo de esclerosis tuberosa
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Descriptor Portuguese:
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Proteína 1 do Complexo Esclerose Tuberosa
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Synonyms English:
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Hamartin
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Tree Number:
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D12.644.360.925
D12.776.476.932
D12.776.624.776.766
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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 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS. |
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History Note English:
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2019 (1997)
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Allowable Qualifiers English:
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Record Number:
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57502
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Unique Identifier:
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D000077004
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Occurrence in VHL:
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Similar:
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DeCS
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