This antibody can recognize two isoforms: 70 kDa (667aa) and 130 kDa.
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome caused by mutations in either of the TSC1 or TSC2 tumor suppressor genes. The products of these genes form a protein complex that indirectly decreases the signaling of the mammalian Target of Rapamycin (TOR), an evolutionarily conserved serine/threonine kinase that regulates cell growth and cell cycle through its ability to integrate signals from nutrient levels and growth factors. TOR activity is stimulated by Rheb, a member of the Ras superfamily of G-proteins, when the GTP/GDP ratio bound to Rheb is high. Immunoprecipitated TSC1/TSC2 has been shown to stimulate Rheb GTPase activity in vitro, suggesting that the TSC1/TSC2 decreases the ability of Rheb to stimulate TOR activity. This is supported by experiments showing overexpression of TSC1 and TSC2 results in a significant decrease in the GTP/GDP ratio bound to Rheb and the inhibition of cell growth. A shorter 40 kDa isoform of TSC1 has been shown to exist but its function is unknown.
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Protein Aliases: Hamartin; HGNC:12362; MGC86987; OTTHUMP00000022439; OTTHUMP00000198378; Tuberous sclerosis 1 protein; Tuberous sclerosis 1 protein homolog; tumor suppressor
Gene Aliases: KIAA0243; LAM; TSC; TSC1