Mutations in the KEAP1 gene can have significant implications for human health. Loss-of-function mutations can lead to persistent activation of Nrf2, which, while protective against oxidative stress, may also contribute to oncogenesis by enabling cancer cells to resist oxidative damage and chemotherapeutic agents. Conversely, gain-of-function mutations can result in excessive degradation of Nrf2, impairing the cellular defense mechanism against oxidative stress and increasing susceptibility to damage from environmental toxins.
