SETBP1 related developmental delay

Molecular characteristics

What causes SETBP1-disorder?

SETBP1 disorder is also caused by changes in the SETBP1 gene. In contrast to mutations in SGS (where there is a sort of overproduction of the protein), these mutations lead to less amount of the SETBP1 protein. How these mutations cause SETBP1 disorder is not fully understood. The SETBP1 gene is shown to be expressed in numerous tissues including the brain.