RecQ-mediated genome instability protein 1 (RMI1)

RecQ-mediated genome instability protein 1 (RMI1) is a highly conserved nuclear protein, encoded by the RMI1 gene (previously C9orf76), and is a key component of the Bloom syndrome complex, which also comprises Bloom DNA helicase (BLM), DNA topoisomerase III alpha (TOP3A), and RMI2[1][2][3][5][6]. RMI1 plays an essential role in maintaining genomic stability by facilitating error-free repair of DNA double-strand breaks through homologous recombination[1][3][6]. It acts primarily as a scaffold or accessory protein with OB-fold domains that interact with other components of the complex, including BLM and TOP3A, to resolve recombination intermediates and prevent deleterious crossover events during DNA repair[1][2][3]. Mutations in RMI1 are rare but have been linked to Bloom syndrome-like disorders and various forms of genomic instability diseases[2][3]. Experimental silencing or loss of RMI1 results in impaired DNA repair, elevated genome instability, delayed cell cycle recovery after DNA damage, and increased sensitivity to genotoxic agents such as ionizing radiation[1][3]. RMI1 is not currently known as a direct drug target, and no drugs are established to act on it directly[3][6].

Other names

C9orf76