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WHAT IS SETBP1?
The SETBP1 gene is located on the long (q) arm of chromosome 18 at position 12.3. This gene contains the instructions to produce SETBP1 protein. The protein is shown to be active in numerous tissues, predominantly in the brain. This suggests that changes involving this gene may impact the development and/or function of brain cells.
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. There is still more to learn about the overall function of the SETBP1 protein and more research is necessary.
Two distinct classes of mutations in the SETBP1 gene are recognized. These are loss of function mutations and gain of function mutations. Loss of function mutations lead to a decreased amount of the SETBP1 protein being produced are associated with SETBP1 Haploinsufficiency Disorder (SETBP1-HD). Gain of function mutations of SETBP1 lead to an accumulation of SETBP1 protein within cells and cause Schinzel-Giedion Syndrome (SGS).