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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