SETBP1

SET binding protein 1 is a is_associated_with::protein that in humans is encoded by the SETBP1 is_associated_with::gene.

Gene
The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 21.1.

Function
The SETBP1 gene provides instructions for making a protein known as the SET binding protein 1, which is widely distributed throughout somatic cells. The protein is known to bind to another protein called SET; however the function of the SETBP1 protein and the effect of SET binding are unknown.

Clinical significance
Mutations in the SETBP1 gene are associated with is_associated_with::Schinzel–Giedion syndrome.

SETBP1 is a is_associated_with::oncogene; specific somatic mutations of this gene were discovered in patients affected by atypical Chronic Myeloid Leukemia (is_associated_with::aCML) and related diseases. These mutations, which are identical to the ones present in SGS as is_associated_with::germ line mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.