RUNX1T1

RUNX1T1 (also known as Runt-related transcription factor 1; translocated to, 1) is a gene that encodes a nuclear protein in humans. This protein is a member of the E26 transformation-specific (ETS) family of transcription factors and is involved in the regulation of gene expression.

Function

The RUNX1T1 gene is located on the long (q) arm of chromosome 8 at position 21. The protein encoded by this gene is a member of the myeloid translocation gene (MTG) family. These proteins are transcriptional corepressors that play a role in hematopoiesis, the process by which blood cells are formed.

The RUNX1T1 protein interacts with a variety of other proteins, including the core-binding factor (CBF) and E2F1, to regulate gene expression. It is thought to play a role in the development of certain types of leukemia when it is fused with the RUNX1 gene due to a chromosomal translocation.

Clinical significance

Mutations in the RUNX1T1 gene have been associated with a variety of hematological disorders, including acute myeloid leukemia (AML). In particular, a translocation between chromosomes 8 and 21, which results in a fusion between the RUNX1 and RUNX1T1 genes, is one of the most common genetic abnormalities in AML. This fusion gene produces a protein that can disrupt normal blood cell development and lead to leukemia.

Research

Research into the RUNX1T1 gene and its associated proteins is ongoing, with a focus on understanding its role in normal blood cell development and in the pathogenesis of leukemia. This research may lead to new treatments for leukemia and other hematological disorders.

See also

• Gene
• Transcription factor
• Leukemia
• Hematopoiesis

References

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