TSC2

Tuberin is a protein in mammalian cells, which acts as a tumor suppressor. For this function, the formation of the hamartin - tuberin complex is necessary, which can be disturbed by various defects in humans, for example, by mutation of the TSC2 gene. Inability to form the complex is the cause of tuberous sclerosis, a genetic disease.

Tuberin containing the RAP -GAP domain, which is the cause of the activation of the GTPases RHEB, RAP1A and Rab5 by the TSC complex.

TSC1 Protein isoform Human Genome Organisation G-Protein Digital Object Identifier PubMed Central
785857
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