CBFA2T3
CBFA2T3 (Core-binding factor subunit beta-AML1 translocation partner 3) is a protein that in humans is encoded by the CBFA2T3 gene. This gene is located on chromosome 16 and is part of the RUNX1 translocation partner gene family.
Function[edit | edit source]
The CBFA2T3 gene encodes a protein that is a member of the E-protein family. This protein plays a crucial role in hematopoiesis, the process by which all of the blood cell types are made in the body. It is also involved in the regulation of gene expression, which is the process by which information from a gene is used to create a functional product like a protein.
Clinical significance[edit | edit source]
Mutations in the CBFA2T3 gene have been associated with various types of leukemia, including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). These mutations can lead to the production of an abnormal protein that disrupts normal blood cell development, leading to the overproduction of immature white blood cells.
Research[edit | edit source]
Research into the CBFA2T3 gene and its associated protein is ongoing, with scientists seeking to better understand its role in blood cell development and how mutations in this gene contribute to the development of leukemia. This research could potentially lead to new treatments for these types of cancer.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD