RUNX1T1 gene

RUNX1 translocation partner 1

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.

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: 8q21.3, which is the long (q) arm of chromosome 8 at position 21.3

Molecular Location: base pairs 91,954,967 to 92,103,365 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q21.3, which is the long (q) arm of chromosome 8 at position 21.3
  • acute myelogenous leukemia 1 translocation 1, cyclin-D related
  • AML1T1
  • CBFA2T1
  • CDR
  • core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related
  • eight twenty one protein
  • ETO
  • MTG8
  • myeloid translocation gene on 8q22
  • protein CBFA2T1
  • runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • runt related transcription factor 1; translocated to, 1 (cyclin D related)
  • zinc finger MYND domain-containing protein 2
  • ZMYND2