Tuberin

Tuberin is a protein encoded by the TSC2 gene in humans. It is a key component of the TSC complex, which is involved in the regulation of cell growth and cell proliferation. Tuberin functions as a tumor suppressor and is implicated in the genetic disorder known as tuberous sclerosis complex.

Function

Tuberin, in conjunction with hamartin (encoded by the TSC1 gene), forms a complex that inhibits the mTOR (mechanistic target of rapamycin) signaling pathway. This pathway is crucial for regulating cellular metabolism, growth, and proliferation. The TSC1-TSC2 complex acts as a GTPase-activating protein (GAP) for the small GTPase Rheb, thereby inhibiting mTORC1 activity.

Clinical significance

Mutations in the TSC2 gene can lead to the development of tuberous sclerosis complex, a genetic disorder characterized by the growth of benign tumors in multiple organs, including the brain, skin, kidneys, and heart. These mutations disrupt the normal function of the TSC1-TSC2 complex, leading to uncontrolled cell growth and proliferation.

Interactions

Tuberin interacts with several proteins, including:

• Hamartin (TSC1)
• 14-3-3 proteins
• AMP-activated protein kinase (AMPK)

These interactions are essential for the regulation of the mTOR pathway and the maintenance of cellular homeostasis.

See also

• Tuberous sclerosis complex
• mTOR signaling pathway
• Tumor suppressor gene

External links

• TSC2 gene - NCBI
• TSC2 - OMIM

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