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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.
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.
A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO). Because this genetic change affects CBF, the condition is classified as core binding factor AML (CBF-AML).
The resulting fusion protein, RUNX1-ETO, is able to form CBF and attach to DNA, like the normal RUNX1 protein; however, instead of turning genes on, it turns them off. 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. While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells.
Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. They are found only in certain cells of the body.
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 34,787,800 to 35,049,309
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 34,787,800 to base pair 35,049,309 on chromosome 21.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.