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RUNX1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RUNX1 gene

The RUNX1 gene provides instructions for creating a transcription factor critical for blood cell development, and mutations in this gene are linked to various blood cancers.

Normal Function

The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). As a transcription factor, the RUNX1 protein attaches to specific regions of DNA to control the activity of particular genes. It interacts with a protein called core binding factor beta (CBFβ) to form a complex known as core binding factor (CBF).

The RUNX1 protein activates genes that control hematopoiesis, the development of blood cells. It is particularly important for the development of hematopoietic stem cells, which can mature into all types of blood cells, including white blood cells, red blood cells, and platelets.

Health Conditions Related to Genetic Changes

Core binding factor acute myeloid leukemia

A rearrangement of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with acute myeloid leukemia (AML). This translocation, written as t(8;21), fuses the RUNX1 gene on chromosome 21 with the RUNX1T1 gene (also known as ETO) on chromosome 8.

  • The resulting fusion protein, RUNX1-ETO, attaches to DNA but turns genes off instead of on.
  • This blocks the maturation of blood cells, leading to the production of abnormal, immature white blood cells called myeloid blasts.
  • Additional genetic mutations are typically required for these blasts to develop into cancerous leukemia cells.

Other disorders

Translocations and other mutations involving the RUNX1 gene are associated with several blood disorders, including:

  • Acute lymphoblastic leukemia (ALL)
  • Chronic myelomonocytic leukemia (CMML)
  • Familial platelet disorder with predisposition to acute myeloid leukemia
  • Myelodysplastic syndromes (MDS)

These mutations are generally somatic, meaning they are not inherited and are found only in certain cells of the body.

Other Names for This Gene

  • acute myeloid leukemia 1 protein
  • AML1
  • AMLCR1
  • CBF-alpha-2
  • CBFA2
  • core-binding factor, runt domain, alpha subunit 2
  • oncogene AML-1
  • runt-related transcription factor 1
  • RUNX1_HUMAN

Frequently Asked Questions

Testing typically involves a peripheral blood draw or bone‑marrow aspirate analyzed by fluorescence in‑situ hybridization (FISH), PCR, or next‑generation sequencing (NGS). No special preparation is usually needed, but inform the lab if you’re on anticoagulants. Your doctor may request a repeat sample if the initial result is inconclusive.;If a family member has a known RUNX1 mutation, should I get screened even if I feel healthy?::Yes. Inherited RUNX1 mutations confer a hereditary predisposition to platelet disorders and acute leukemias. Targeted germline testing of blood or saliva can identify carriers, allowing earlier monitoring of blood counts and discussion of preventive strategies.;What early warning signs suggest that a person with familial platelet disorder (caused by RUNX1) is progressing toward acute myeloid leukemia?::Watch for unexplained fatigue, easy bruising, frequent infections, or a sudden drop in platelet count below 50 × 10⁹/L. New anemia or rising white‑cell blasts on a routine CBC should prompt a bone‑marrow evaluation promptly.;How does the presence of a RUNX1‑ETO fusion (t(8;21)) influence treatment decisions for AML?::t(8;21) AML is considered a favorable‑risk subtype, so standard “7 + 3” chemotherapy (cytarabine + anthracycline) is often effective, and many patients achieve remission without immediate transplant. However, clinicians may still recommend allogeneic stem‑cell transplant if additional high‑risk mutations are present or if remission is short‑lived.
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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