ab94171 is a 293T cell transfected lysate in which Human SETBP1 has been transiently over-expressed using a pCMV-SETBP1 plasmid. The lysate is provided in 1X Sample Buffer. Note: For more detailed about how the transfected lysate was prepared view preparation notes
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.
Similarity: Contains 3 A.T hook DNA-binding domains.