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SETBP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SETBP1 gene

The SETBP1 gene provides instructions for the SET binding protein 1, which regulates gene expression and is critical for normal brain development before birth.

Normal Function

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.

Health Conditions Related to Genetic Changes

Schinzel-Giedion syndrome

At least 16 mutations in the SETBP1 gene have been identified in children with Schinzel-Giedion syndrome, a severe condition apparent at birth characterized by distinctive facial features and abnormalities in many body systems. The gene mutations in affected individuals typically occur in a region of the gene known as exon 4. All of these mutations result in the change of single protein building blocks (amino acids) in the SETBP1 protein. These mutations are described as "gain-of-function" mutations because they increase the activity of the SETBP1 protein. Increased SETBP1 protein activity probably alters the expression of other genes, particularly genes involved in development before birth, and likely contributes to the many features of Schinzel-Giedion syndrome.

SETBP1 haploinsufficiency disorder

SETBP1 gene mutations have been found to cause a condition called SETBP1 disorder. This condition is not as severe as Schinzel-Giedion syndrome and is characterized by speech and language problems, intellectual disability, and distinct facial features.

SETBP1 disorder can be caused by insertions or deletions of small amounts of DNA within the SETBP1 gene. In some cases, SETBP1 disorder results from the loss of a small piece of chromosome 18 that contains the SETBP1 gene. In contrast to the mutations that cause Schinzel-Giedion syndrome, the mutations that cause SETBP1 disorder are known as "loss-of-function" because they prevent the production of any functional SETBP1 protein. A shortage of this protein probably impairs the expression of certain genes in the brain, disrupting development.

Cancers

Mutations in the SETBP1 gene have been associated with cancers of blood-forming cells, including:

  • Juvenile myelomonocytic leukemia
  • Acute myeloid leukemia
  • Chronic myeloid leukemia
  • Myelodysplastic syndrome

These mutations are somatic, meaning they are acquired during a person's lifetime and are present only in cells that give rise to cancer. These mutations are likely "gain-of-function," leading to the production of an overactive SETBP1 protein that promotes the growth of cancers by allowing abnormal blood cells to grow and divide uncontrollably.

Other Names for This Gene

  • KIAA0437
  • SEB
  • SET-binding protein
  • SET-binding protein isoform a
  • SET-binding protein isoform b
  • SETBP_HUMAN

Frequently Asked Questions

The first clues often appear at birth or within the first few weeks. Parents and clinicians look for a combination of distinctive facial features such as a broad nasal bridge, a high forehead, a small lower jaw, and widely spaced eyes. Other signs include severe developmental delay, seizures that start early, breathing difficulties, and a range of skeletal abnormalities like extra ribs or abnormal vertebrae. Early recognition is key for prompt supportive care.
Children with SETBP1 haploinsufficiency typically have moderate to severe intellectual disability, speech delays, and variable motor challenges. Many also have feeding difficulties and growth delays. While there is no cure, early intervention with speech therapy, occupational therapy, and physical therapy can improve functional outcomes. Regular monitoring for seizures and orthopedic issues is also important.
Most SETBP1 mutations arise de novo (new in the child), so the recurrence risk for future pregnancies is low, usually less than 1%. However, if a parent carries a germline mutation, the risk increases to about 50%. Genetic counseling and prenatal testing (amniocentesis or chorionic villus sampling) can help assess risk in subsequent pregnancies.
genetic test called targeted sequencing or whole‑exome sequencing is performed on a blood or saliva sample. The lab specifically looks for the known “gain‑of‑function” mutations in exon 4 of the SETBP1 gene. Results are usually available within 2–4 weeks and are interpreted by a clinical geneticist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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