CBFA2T2

CBFA2T2 (Core-binding factor, runt domain, alpha subunit 2; translocated to, 2) is a protein that in humans is encoded by the CBFA2T2 gene. This gene is located on the long arm of chromosome 20 (20q11.2) and is part of the RUNX1-CBFA2T1 fusion gene, which is associated with acute myeloid leukemia.

Function

The CBFA2T2 gene encodes 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 encoded protein can interact with the histone deacetylase complex, which is involved in the regulation of gene expression.

Clinical significance

Mutations in the CBFA2T2 gene have been associated with various types of leukemia, including acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). The gene is often involved in chromosomal translocations in leukemia, which can result in the formation of fusion genes that contribute to the development of the disease.

Research

Research into the CBFA2T2 gene and its associated protein is ongoing, with studies focusing on its role in hematopoiesis and its potential as a target for leukemia treatments.

See also

• Chromosome 20 (human)
• Gene
• Protein
• Leukemia
• Acute myeloid leukemia
• Chronic myeloid leukemia
• Hematopoiesis
• Histone deacetylase