TSC1 Products

Description

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

Bioinformatics

Entrez	64930 Mouse 7248 Human
Uniprot	AAC51674 Human NM_000368 Human NP_000359 Human NP_000359.1 Human Q92574 Human
Product By Gene ID	7248
Alternate Names	KIAA0243MGC86987 LAMhamartin TSC Tuberous sclerosis 1 protein tuberous sclerosis 1 tumor suppressor

Research Areas for TSC1

Find related products by research area and learn more about each of the different research areas below.

Autophagy
Cancer
Hypoxia
mTOR Pathway
Phospho-Specific

Related TSC1 Blog Posts

Check out the latest blog posts on TSC1.

TSC1 - a negative regulator of mTOR signaling TSC1 is a tumor suppressor gene that encodes a 130 kDa protein called hamartin. TSC1 was first identified as an oncogenic driver of Tuberous Sclerosis, a condition characterized by numerous benign tumors of the skin, brain, heart, and lungs. A mut...    Read more.

Read more TSC1 related blogs.