Tuberin

Tuberin is a protein that in humans is encoded by the TSC2 gene. It is named after its association with tuberous sclerosis, a genetic condition that causes benign tumors to grow in different parts of the body. Tuberin, along with hamartin, forms a complex that inhibits the mammalian target of rapamycin (mTOR), a key regulator of cell growth and proliferation.

Function

Tuberin is a GTPase-activating protein (GAP) for the small GTPase Rheb, a direct activator of mTOR signalling. The TSC1-TSC2 complex acts as a 'brake' on mTOR signalling, which is released in response to certain growth signals. Mutations in the TSC2 gene can lead to a loss of this brake, resulting in uncontrolled cell growth and the formation of benign tumors.

Clinical significance

Mutations in the TSC2 gene are associated with tuberous sclerosis complex, a genetic disorder characterized by the growth of numerous benign tumors in the brain, skin, heart, lungs, and kidneys. Symptoms can range from mild skin abnormalities to severe neurological and renal disease.

File:Tuberin.png

Tuberin protein structure

Research

Research into tuberin and its role in mTOR signalling has potential implications for the treatment of a variety of diseases, including cancer, diabetes, and neurological disorders. Several drugs that target mTOR, such as rapamycin and its analogs, are currently in clinical use or in development.

See also

• TSC1
• Tuberous sclerosis
• Rapamycin
• mTOR

References

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