Tags: Protein.
SETBP1 is a human gene.It can be associated with Schinzel–Giedion syndrome.In 2012 SETBP1 was identified as a novel oncogene; specific somatic mutations of this gene were discovered in patients affected by atypical Chronic Myeloid Leukemia (aCML) and related diseases. These mutations which are identical to the ones present in SGS as germ line mutations impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.