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Concept information

Preferred term

Tuberous Sclerosis Complex 1 Protein  

Type

  • Topical Descriptor

Entry terms

  • Hamartin

Scope note

  • 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.

History note

  • 2019 (1997)

In other languages

  • Finnish

  • tuberoosiskleroosikompleksin proteiini 1
  • tuberoosiskleroosikompleksiproteiini 1

URI

http://www.yso.fi/onto/mesh/D000077004

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