Medical Definition of TSC1

  • 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

TSC1: The tuberous sclerosis 1 gene. The product of the TSC1 gene is a protein called hamartin. This protein interacts with tuberin, the product of the TSC2 gene. These two proteins form a complex and play a role in cell growth and division. TSC1 functions as a tumor suppressor gene.

Mutation in the TSC1 gene causes tuberous sclerosis. The mutant TSC1 gene produces an abnormal version of hamartin. This abnormal protein cannot form a complex with tuberin, the product of the TSC2 gene. Loss of this protein complex causes cells to divide too often, resulting in cell overgrowth and benign tumors. The TSC1 gene is located on the long (q) arm of chromosome 9 in band 9q34.

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Reviewed on 12/21/2018