Tsc2
Tsc2 (pronounced "T-S-C-2") is a gene that encodes the tuberous sclerosis 2 protein, also known as Tuberin. This gene is associated with Tuberous Sclerosis Complex, a genetic disorder that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs.
Etymology
The name "Tsc2" is an abbreviation for "Tuberous Sclerosis Complex 2". The term "tuberous" is derived from the Latin word "tuber", meaning lump or swelling, which refers to the tumor-like growths that occur in this disorder. The term "sclerosis" comes from the Greek word "sklerosis", meaning hardness, and refers to the calcified nature of the tumors.
Function
The Tsc2 gene provides instructions for making the tuberin protein. Tuberin forms a complex with another protein called Hamartin, which is produced from the TSC1 gene. This complex helps regulate cell growth and size by controlling the activity of a protein known as mTOR. When the TSC1-TSC2 complex is not functioning properly, mTOR activity can increase, leading to uncontrolled cell growth and the formation of benign tumors.
Related Terms
- TSC1: The gene that encodes the hamartin protein, which forms a complex with tuberin.
- mTOR: A protein that is regulated by the TSC1-TSC2 complex and is involved in cell growth and size.
- Tuberous Sclerosis Complex: A genetic disorder characterized by the growth of benign tumors in the brain and other vital organs.
See Also
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