TSC2

TSC2 is a gene that provides instructions for making a protein called tuberin. This protein is part of a complex that regulates cell growth and size. Mutations in the TSC2 gene can lead to a variety of medical conditions, including Tuberous sclerosis and Lymphangioleiomyomatosis.

Function

The TSC2 gene provides instructions for making the protein tuberin. Tuberin forms a complex with another protein, hamartin, which is produced from the TSC1 gene. This complex acts as a tumor suppressor, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way.

Clinical significance

Mutations in the TSC2 gene can lead to a variety of medical conditions. The most common of these is tuberous sclerosis, a condition that can cause skin abnormalities, seizures, and intellectual disability. Mutations in the TSC2 gene can also cause lymphangioleiomyomatosis, a rare lung disease that primarily affects women.

Genetics

The TSC2 gene is located on the short (p) arm of chromosome 16 at position 13.3. More precisely, the TSC2 gene is located from base pair 2,082,597 to base pair 2,208,375 on chromosome 16.

See also

• TSC1
• Tuberous sclerosis
• Lymphangioleiomyomatosis
• Chromosome 16

External links

• TSC2 at Genetics Home Reference
• TSC2 at NCBI