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

RBPJ gene

The RBPJ gene provides instructions for making the RBP-J protein, a critical component of the Notch signaling pathway that regulates embryonic development.

Normal Function

The RBPJ gene provides instructions for making a protein called RBP-J, which is an integral part of a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells develop in the growing embryo, including those that form the bones, heart, muscles, nerves, and blood. Signaling through the Notch pathway stimulates the RBP-J protein to attach (bind) to specific regions of DNA and control the activity of genes that play a role in cellular development.

Health Conditions Related to Genetic Changes

Adams-Oliver syndrome

Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations change single protein building blocks in the RBP-J protein, altering the region of the protein that normally binds to DNA. The altered proteins are unable to bind to DNA, preventing the activation of particular genes. These changes in gene activity impair the proper development of the skin on the top of the head and the bones in the hands and feet. It is unclear why impaired development primarily affects these tissues.

Other Names for This Gene

  • CBF-1
  • CBF1
  • H-2K binding factor-2
  • IGKJRB
  • IGKJRB1
  • RBP-J
  • RBP-J kappa
  • RBP-JK
  • RBPJK
  • RBPSUH
  • SUH
  • SUH_HUMAN

Frequently Asked Questions

Most RBPJ‑related cases are autosomal‑dominant, meaning a single altered copy can cause disease. Approximately 50 % of affected individuals inherit the variant from an affected parent, while the other 50 % arise de novo. Parental testing is therefore recommended to determine if the variant is inherited or new, which directly impacts recurrence risk.
Currently there are no therapies that directly correct the RBPJ mutation. Management focuses on multidisciplinary care: orthopedic interventions (e.g., splinting, surgery) for limb anomalies, dermatologic care for scalp lesions, and regular cardiac evaluation because heart defects can co‑occur. Research into Notch‑pathway modulators is ongoing, but they are not yet clinically available.
Yes. Targeted sequencing of the RBPJ gene can identify pathogenic variants that are known to cause Adams‑Oliver syndrome. Confirming a genetic cause helps clarify recurrence risk for future pregnancies, guides family counseling, and may qualify the family for research studies or clinical trials.
If a pathogenic RBPJ variant has been identified in a family member, prenatal diagnosis (via chorionic villus sampling or amniocentesis) or pre‑implantation genetic testing (PGT‑M) can be performed to determine if the fetus carries the same mutation. Discuss with a genetic counselor to weigh the benefits, limitations, and timing of these options.
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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