TSC1

TSC1 (Tuberous Sclerosis Complex 1) is a gene that encodes for the protein hamartin. This gene is located on chromosome 9 and is associated with the genetic disorder Tuberous Sclerosis Complex (TSC).

Function

The TSC1 gene provides instructions for making the protein hamartin. This protein interacts with another protein called tuberin, which is produced from the TSC2 gene. Together, hamartin and tuberin form a complex that plays a critical role in regulating cell growth and size. The complex accomplishes this by inhibiting a protein called mTOR, which stimulates cell division and the production of proteins.

Clinical Significance

Mutations in the TSC1 gene can lead to the development of Tuberous Sclerosis Complex, a condition characterized by the growth of noncancerous (benign) tumors in many parts of the body. These mutations are usually inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Research

Research into the TSC1 gene and its associated protein complex continues to be a significant area of study in genetics and molecular biology. Understanding the function and regulation of this gene could lead to new treatments for Tuberous Sclerosis Complex and other conditions associated with uncontrolled cell growth, such as cancer.

See Also

• TSC2
• Tuberous Sclerosis Complex
• mTOR
• Autosomal dominant