Tissue Specificity: Expressed in numerous tissues.
DISEASE: Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]. It is a disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.