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SETBP1 (SET\u2010binding protein 1\/SEB\/MRD29), identified as SET\u2010binding protein, is the causative gene of Schinzel\u2013Giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. Mutations in these genetic regions are also observed in some blood cancers, such as myelodysplastic syndromes, and are associated with a poor prognosis. However, the physiological role of SETBP1 and the molecular mechanisms by which the mutations lead to disease progression have not yet been fully elucidated. 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