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<span>RUNX1 gene</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/runx1/</span>
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<article>
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<a name="start" id="start"></a>
<h1 class="with-also">RUNX1 gene</h1>
<span class="alsocalled">RUNX family transcription factor 1</span>
</div>
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<div class="mp-exp exp-full" data-bookmark="function">
<h2>Normal Function</h2>
<section><div class="mp-content"><p>The <i>RUNX1</i> 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 <i><a data-pid="19201" href="https://medlineplus.gov/genetics/gene/cbfb/">CBFB</a></i> 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.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="conditions">
<h2>Health Conditions Related to Genetic Changes</h2>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Core binding factor acute myeloid leukemia</h3>
<p>A rearrangement (translocation) of genetic material involving the <i>RUNX1</i> 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 <i>RUNX1</i> gene on chromosome 21 with a gene on chromosome 8 called <i><a data-pid="19197" href="https://medlineplus.gov/genetics/gene/runx1t1/">RUNX1T1</a></i> (also known as <i>ETO</i>). Because this genetic change affects CBF, the condition is classified as core binding factor AML (CBF-AML).</p><p>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.</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia/">More About This Health Condition</a>
</div>
</section>
<section>
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<h3>Cytogenetically normal acute myeloid leukemia</h3>
<p>MedlinePlus Genetics provides information about Cytogenetically normal acute myeloid leukemia</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia/">More About This Health Condition</a>
</div>
</section>
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<div class="mp-content mp-exp exp-full">
<h3>Juvenile idiopathic arthritis</h3>
<p>MedlinePlus Genetics provides information about Juvenile idiopathic arthritis</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/juvenile-idiopathic-arthritis/">More About This Health Condition</a>
</div>
</section>
<section>
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<h3>Rheumatoid arthritis</h3>
<p>MedlinePlus Genetics provides information about Rheumatoid arthritis</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/rheumatoid-arthritis/">More About This Health Condition</a>
</div>
</section>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Systemic mastocytosis</h3>
<p>MedlinePlus Genetics provides information about Systemic mastocytosis</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/systemic-mastocytosis/">More About This Health Condition</a>
</div>
</section>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Other disorders</h3>
<p>Translocations and other types of mutations involving the <i>RUNX1</i> 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 <i>RUNX1</i> gene mutations associated with these diseases are somatic mutations and are not inherited. They are found only in certain cells of the body.</p>
</div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Gene</h2>
<section>
<ul class="bulletlist">
<li>acute myeloid leukemia 1 protein</li> <li>AML1</li> <li>AMLCR1</li> <li>CBF-alpha-2</li> <li>CBFA2</li> <li>core-binding factor, runt domain, alpha subunit 2</li> <li>oncogene AML-1</li> <li>PEA2-alpha B</li> <li>PEBP2-alpha B</li> <li>PEBP2A2</li> <li>PEBP2aB</li> <li>polyomavirus enhancer-binding protein 2 alpha B subunit</li> <li>runt-related transcription factor 1</li> <li>RUNX1_HUMAN</li> <li>SL3-3 enhancer factor 1 alpha B subunit</li> <li>SL3/AKV core-binding factor alpha B subunit</li>
</ul>
</section>
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<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Tests Listed in the Genetic Testing Registry</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=861[geneid]" target="TheNewWin">Tests of RUNX1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28RUNX1%5BTI%5D%29+OR+%28runt-related+transcription+factor+1%5BTI%5D%29%29+AND+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+360+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/151385" target="TheNewWin">RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1</a></li>
<li><a href="https://omim.org/entry/601399" target="TheNewWin">PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Gene and Variant Databases</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/861" target="TheNewWin">NCBI Gene</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RUNX1[gene]" target="TheNewWin">ClinVar</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Goyama S, Mulloy JC. Molecular pathogenesis of core binding factor leukemia:
current knowledge and future prospects. Int J Hematol. 2011 Aug;94(2):126-133.
doi: 10.1007/s12185-011-0858-z. Epub 2011 May 3. <a href="https://pubmed.ncbi.nlm.nih.gov/21537931" target="TheNewWin">Citation on PubMed</a></li>
<li>Goyama S, Schibler J, Cunningham L, Zhang Y, Rao Y, Nishimoto N, Nakagawa M,
Olsson A, Wunderlich M, Link KA, Mizukawa B, Grimes HL, Kurokawa M, Liu PP, Huang
G, Mulloy JC. Transcription factor RUNX1 promotes survival of acute myeloid
leukemia cells. J Clin Invest. 2013 Sep;123(9):3876-88. doi: 10.1172/JCI68557.
Epub 2013 Aug 27. Erratum In: J Clin Invest. 2013 Nov 1;123(11):4979. <a href="https://pubmed.ncbi.nlm.nih.gov/23979164" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754260/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with
PEBP2beta protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation.
EMBO J. 2001 Feb 15;20(4):723-33. doi: 10.1093/emboj/20.4.723. <a href="https://pubmed.ncbi.nlm.nih.gov/11179217" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC145428/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Lam K, Zhang DE. RUNX1 and RUNX1-ETO: roles in hematopoiesis and
leukemogenesis. Front Biosci (Landmark Ed). 2012 Jan 1;17(3):1120-39. doi:
10.2741/3977. <a href="https://pubmed.ncbi.nlm.nih.gov/22201794" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433167/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Ran D, Shia WJ, Lo MC, Fan JB, Knorr DA, Ferrell PI, Ye Z, Yan M, Cheng L,
Kaufman DS, Zhang DE. RUNX1a enhances hematopoietic lineage commitment from human
embryonic stem cells and inducible pluripotent stem cells. Blood. 2013 Apr
11;121(15):2882-90. doi: 10.1182/blood-2012-08-451641. Epub 2013 Jan 31. <a href="https://pubmed.ncbi.nlm.nih.gov/23372166" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624936/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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<section><div class="side-section"><div class="mp-content"><div class="section-header"><h2>Genomic Location</h2></div><div class="section-body"><span>The <em>RUNX1</em> gene is found on <a data-pid="20071" href="https://medlineplus.gov/genetics/chromosome/21/">chromosome 21</a>.</span></div></div>
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