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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.