Medical Definition of TSC2

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Reviewed on 12/21/2018

TSC2: The tuberous sclerosis 2 gene. The product of the TSC2 gene is a protein called tuberin. This protein interacts with hamartin, the product of the TSC1 gene. These two proteins form a complex and play a role in cell growth and division. The complex of these two proteins also controls how materials are transported within cells. Tuberin is thought to function as a tumor suppressor gene involved in arresting cell growth. It may also function by regulating how certain genes are turned on and off.

Mutation in the TSC2 gene causes tuberous sclerosis. The mutant TSC2 gene produces an abnormal version of tuberin. This abnormal protein cannot form a complex with hamartin, the product of the TSC1 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC2 gene is located on the short (p) arm of chromosome 16 in band 16p13.3.

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Reviewed on 12/21/2018