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.
Other Names
KIAA0437; SEB; SET-binding protein; SET-binding protein isoform a; SET-binding protein isoform b; SETBP_HUMAN
Related Genetics Topics
- Schinzel-Giedion syndrome — MedlinePlus Genetics
- SETBP1 disorder — MedlinePlus Genetics
Identifiers
- NCBI Gene: 26040
- OMIM: 611060
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
