" /> Hamartin - CISMeF





Preferred Label : Hamartin;

NCIt synonyms : Tuberous Sclerosis 1 Protein; TSC1;

NCIt definition : Hamartin (1164 aa, 130 kDa) is encoded by the human TSC1 gene. This protein is involved in the negative regulation of signaling.;

NCIt note : A product of the tumor suppressor gene TSC1. Hamartin and tuberin (TSC2) associate physically and may function together in the insulin-signaling pathway. Hamartin may stabilize ubiquitinated tuberin, which contributes to inhibition of cell growth. Loss of hamartin leads to loss of cell adhesion and initiates the development of TSC hamartomas.;

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31/07/2025


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