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The official name of this gene is “runt-related transcription factor 1; translocated to, 1 (cyclin D-related).”
RUNX1T1 is the gene's official symbol. The RUNX1T1 gene is also known by other names, listed below.
The RUNX1T1 gene provides instructions for making a protein commonly referred to as ETO, which helps regulate the activity of genes. ETO is considered a transcriptional corepressor because it turns off (represses) gene activity. It performs this function by attaching (binding) to proteins that normally turn genes on and blocking their activity. It also interacts with other corepressors to help keep genes turned off.
The RUNX1T1 gene belongs to a family of genes called ZMYND (zinc fingers, MYND-type).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
A rearrangement (translocation) of genetic material involving the RUNX1T1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). This translocation, written as t(8;21), combines genetic information from chromosome 8 and chromosome 21, fusing a gene called RUNX1 on chromosome 21 with the RUNX1T1 gene on chromosome 8. When associated with this translocation, the condition is classified as core binding factor AML (CBF-AML).
The protein produced from the normal RUNX1 gene is part of a protein complex known as core binding factor (CBF). As part of CBF, the RUNX1 protein attaches to specific areas of DNA and turns on (activates) genes that are involved in the development of blood cells. Like RUNX1, the fusion protein produced from the t(8;21) translocation, called RUNX1-ETO, attaches to DNA; however, because ETO is involved, the fusion protein turns off genes related to blood cell development instead of turning them on. 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, one or more additional genetic changes are typically needed for the myeloid blasts to develop into cancerous leukemia cells.
Cytogenetic Location: 8q22
Molecular Location on chromosome 8: base pairs 91,954,966 to 92,103,225
The RUNX1T1 gene is located on the long (q) arm of chromosome 8 at position 22.
More precisely, the RUNX1T1 gene is located from base pair 91,954,966 to base pair 92,103,225 on chromosome 8.
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 RUNX1T1 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 myelogenous leukemia ; acute myeloid leukemia ; AML ; cancer ; cell ; chromosome ; corepressor ; differentiation ; DNA ; domain ; gene ; leukemia ; myelogenous ; myeloid ; protein ; rearrangement ; subunit ; transcription ; transcription factor ; translocation ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.