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

CBFB gene

The CBFB gene produces a protein subunit that forms a complex with RUNX proteins to regulate gene activity essential for blood, bone, and nerve cell development.

Normal Function

The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or RUNX3) to form different versions of CBF. These protein complexes bind to specific regions of DNA and help turn on (activate) certain genes.

The presence of CBFβ helps the complex bind to DNA and protects the RUNX protein from being broken down. The function of CBF depends on which RUNX protein it includes:

  • RUNX1: Controls the activity of genes involved in the development of blood cells (hematopoiesis).
  • RUNX2: Regulates genes important for bone cell development and formation of the skeleton.
  • RUNX3: Primarily affects genes involved in the development of nerve cells.

Health Conditions Related to Genetic Changes

Core binding factor acute myeloid leukemia

Rearrangements of genetic material affecting the CBFB gene are involved in a form of blood cancer known as acute myeloid leukemia (AML). Because the genetic changes affect CBF, the condition is classified as core binding factor AML (CBF-AML). The most common of these rearrangements is an inversion of a region of chromosome 16 (written as inv(16)), or less commonly, a translocation between the two copies of chromosome 16 (written as t(16;16)).

Both types of genetic rearrangement lead to the fusion of parts of two genes on chromosome 16, CBFB and MYH11. The protein produced from the fusion gene, called CBFβ-MYH11, can still bind to RUNX1 to form CBF, but the function of CBF is impaired. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts.

Other Names for This Gene

  • CBF-beta
  • core-binding factor beta subunit
  • core-binding factor, beta subunit
  • PEA2-beta
  • PEBB_HUMAN
  • PEBP2-beta
  • PEBP2B
  • polyomavirus enhancer binding protein 2, beta subunit
  • polyomavirus enhancer-binding protein 2 beta subunit
  • SL3-3 enhancer factor 1 beta subunit
  • SL3-3 enhancer factor 1 subunit beta
  • SL3/AKV core-binding factor beta subunit

Frequently Asked Questions

The presence of a CBFB‑MYH11 fusion from inv(16) or t(16;16) defines “core‑binding factor AML,” which generally responds well to standard chemotherapy and has a higher long‑term remission rate than AML without this abnormality.
Cytogenetic analysis (karyotyping) of bone‑marrow cells, fluorescence in‑situ hybridization (FISH) for the CBFB‑MYH11 fusion, or next‑generation sequencing panels can identify the inversion or translocation quickly, often within a few days of the bone‑marrow biopsy.
CBFB rearrangements in AML are somatic (acquired) events, not inherited germline mutations, so routine genetic testing of relatives is not indicated unless there is a known hereditary cancer syndrome in the family.
Currently, core‑binding factor AML is treated primarily with conventional “7+3” chemotherapy (cytarabine plus an anthracycline) and may include high‑dose cytarabine consolidation; there are no approved targeted drugs specifically for the CBFB fusion, though clinical trials of novel agents are ongoing.
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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