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TSC2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TSC2 gene

The TSC2 gene provides instructions for producing the protein tuberin, which acts as a tumor suppressor to regulate cell growth and division.

Normal Function

The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumor suppressors. Hamartin and tuberin carry out their tumor suppressor function by interacting with and regulating a wide variety of other proteins.

Health Conditions Related to Genetic Changes

Lymphangioleiomyomatosis

TSC2 gene variants (also known as mutations) cause most cases of a disorder called lymphangioleiomyomatosis (LAM). This destructive lung disease is characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs. It occurs almost exclusively in women, causing the following symptoms:

  • Coughing
  • Shortness of breath
  • Chest pain
  • Lung collapse

LAM can occur alone (isolated or sporadic LAM) or in combination with tuberous sclerosis complex. Researchers suggest that sporadic LAM is caused by a random variant in the TSC2 gene that occurs very early in development, leading to mosaicism, where some cells have a normal version of the gene while others have the altered version. When a variant occurs in the other copy of the TSC2 gene in certain cells during a woman's lifetime (a somatic variant), she may develop LAM.

Tuberous sclerosis complex

More than a thousand variants in the TSC2 gene have been identified in individuals with tuberous sclerosis complex, a condition characterized by developmental problems and the growth of noncancerous tumors in many parts of the body. Most of these variants insert or delete a small number of DNA building blocks (base pairs) in the TSC2 gene, change a single base pair, or create a premature stop signal in the instructions for making tuberin.

People with TSC2-related tuberous sclerosis complex are born with one altered copy of the TSC2 gene in each cell. While the remaining normal copy usually produces enough tuberin to regulate cell growth, a second variant involving the other copy of the gene must occur in certain cells during a person's lifetime for tumors to develop. When both copies are altered, the cell cannot produce functional tuberin, leading to uncontrolled growth and tumor formation in various organs and tissues.

Other Names for This Gene

  • PPP1R160
  • TSC2_HUMAN
  • tuberin
  • tuberous sclerosis 2

Frequently Asked Questions

For adults with a known TSC2 pathogenic variant, baseline high‑resolution chest CT and brain MRI are recommended at diagnosis. If the initial scans are normal, repeat chest CT every 1–2 years and brain MRI every 2–3 years, or sooner if new respiratory or neurological symptoms appear. Women of child‑bearing age should have more frequent lung imaging because LAM risk rises after puberty.
Pregnancy does not increase the chance of passing the mutation to the child (each child has a 50 % risk). However, hormonal changes can accelerate LAM, so close monitoring of lung function and repeat imaging each trimester is advised. Women on mTOR inhibitors should stop the drug before conception because of potential fetal toxicity, and alternative management plans should be arranged with a maternal‑fetal medicine team.
Urgent evaluation is needed for sudden, severe shortness of breath, sharp chest pain, coughing up blood, or a rapid drop in oxygen saturation, as these can signal pneumothorax (lung collapse) or rapid disease progression. Call emergency services or go to the nearest ER immediately.
Yes. mTOR inhibitors such as everolimus or sirolimus have been shown to shrink renal angiomyolipomas, subependymal giant cell astrocytomas, and LAM lesions. In addition, avoiding smoking, maintaining a healthy weight, and regular aerobic exercise can help preserve lung function. Discuss medication eligibility and dosing with a specialist familiar in TSC care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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