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Reviewed November 2013
What is the official name of the RUNX1 gene?
The official name of this gene is “runt related transcription factor 1.”
RUNX1 is the gene's official symbol. The RUNX1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the RUNX1 gene?
The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. Together, these proteins form one version of a complex known as core binding factor (CBF). The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells, early blood cells that have the potential to develop into all types of mature blood cells such as white blood cells, red blood cells, and platelets.
How are changes in the RUNX1 gene related to health conditions?
Genetics Home Reference provides additional information about these conditions associated with changes in the RUNX1 gene:
Where is the RUNX1 gene located?
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 34,787,801 to 35,049,310
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The RUNX1 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the RUNX1 gene is located from base pair 34,787,801 to base pair 35,049,310 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RUNX1?
You and your healthcare professional may find the following resources about RUNX1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the RUNX1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding RUNX1?
acute ; acute lymphoblastic leukemia ; acute myeloid leukemia ; AML ; arthritis ; cancer ; chromosome ; chronic ; chronic myelomonocytic leukemia ; CMML ; differentiation ; DNA ; domain ; enhancer ; familial ; gene ; hematopoietic ; inherited ; leukemia ; mutation ; myeloid ; oncogene ; platelets ; predisposition ; protein ; rearrangement ; stem cells ; subunit ; transcription ; transcription factor ; translocation ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.