Tsc1
Tsc1
Tsc1 (pronounced "T-S-C-one"), also known as Tuberous Sclerosis Complex 1, is a gene that encodes for the protein hamartin. This gene is located on the ninth chromosome in humans. Mutations in this gene are associated with Tuberous Sclerosis, a rare genetic disorder that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs.
Etymology
The name Tsc1 is an abbreviation for Tuberous Sclerosis Complex 1. 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 condition. "Sclerosis" comes from the Greek word "sklerosis", meaning hardening, which refers to the hard, calcified nature of the tumors.
Function
The Tsc1 gene provides instructions for making a protein called hamartin. This protein interacts with another protein called tuberin, which is produced from the TSC2 gene. Together, these proteins form a complex that helps regulate cell growth and size. The hamartin-tuberin complex accomplishes this by inhibiting a protein called mTORC1, which stimulates cell growth and proliferation when active.
Related Terms
- Tsc2: The gene that encodes for the protein tuberin, which interacts with hamartin to regulate cell growth and size.
- Tuberous Sclerosis: A genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body.
- mTORC1: A protein that stimulates cell growth and proliferation when active. It is inhibited by the hamartin-tuberin complex.
See Also
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