Pesquisa sobre: MFN=57502 
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Descritor Inglês:   Tuberous Sclerosis Complex 1 Protein 
Descritor Espanhol:   Proteína 1 del Complejo de la Esclerosis Tuberosa 
Descritor Português:   Proteína 1 do Complexo Esclerose Tuberosa 
Sinônimos Inglês:   Hamartin  
Categoria:   D12.644.360.925
Definição Inglês:   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. 
Nota Histórica Inglês:   2019 (1997) 
Qualificadores Permitidos Inglês:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Número do Registro:   57502 
Identificador Único:   D000077004 

Ocorrência na BVS: