SETBP1

SETBP1 is a gene that provides instructions for making a protein that is found in many different types of cells. This protein is involved in a variety of cellular processes, including cell division and the regulation of gene activity (expression). The SETBP1 protein interacts with a protein called SET, which is involved in the regulation of gene expression. The SETBP1 protein helps control the activity of the SET protein.

Function

The SETBP1 gene provides instructions for making a protein that is found in many different types of cells. This protein is involved in a variety of cellular processes, including cell division and the regulation of gene activity (expression). The SETBP1 protein interacts with a protein called SET, which is involved in the regulation of gene expression. The SETBP1 protein helps control the activity of the SET protein.

Clinical significance

Mutations in the SETBP1 gene have been found in individuals with Schinzel-Giedion syndrome, a condition characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations. These mutations are believed to result in a gain of function of the SETBP1 protein, leading to an increase in its activity.

See also

• SET (gene)
• Schinzel-Giedion syndrome

External links

• GeneReviews/NCBI/NIH/UW entry on SETBP1
• OMIM entries on SETBP1