Medical Definition of Gain-of-function mutation

  • 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.

Gain-of-function mutation: A mutation that confers new or enhanced activity on a protein. Loss-of-function mutations, which are more common, result in reduced or abolished protein function.

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Last Editorial Review: 1/25/2017

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