SETBP1 is a DNA-binding protein that forms part of a group of proteins that act together on histone methylation to make chromatin more accessible and regulate gene expression.
[6] There is still more to learn about the overall function of the SETBP1 protein and the effect of SET binding.
[8] [9] SETBP1 is an 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.
[10] This article incorporates text from the United States National Library of Medicine, which is in the public domain.