SETBP1 : SET binding protein 1
Description
The SETBP1 (SET binding protein 1) is a protein-coding gene located on chromosome 18.
The SETBP1 gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is found in cells throughout the body. The SETBP1 protein is part of a group of proteins that attaches (binds) to certain regions of DNA to increase gene activity (expression). The protein primarily binds to sections called promoter regions, which control (regulate) the production of proteins. SETBP1 protein levels are highest during brain development before birth. During this time, nerve cells grow and divide (proliferate) and move (migrate) to their proper location in the brain. The SETBP1 protein is thought to control genes that are involved in these developmental processes.
SETBP1 is also known as MRD29, SEB.
Associated Diseases
- Mental retardation, autosomal dominant 29
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- Schinzel-Giedion midface-retraction syndrome
- Schinzel-Giedion syndrome
- SETBP1 disorder
