CEBPA

CEBPA is a gene that encodes a protein known as CCAAT/enhancer binding protein alpha. This protein plays a crucial role in the regulation of genes involved in immune and inflammatory responses. It is also involved in the regulation of genes that control cell growth and differentiation, particularly in hematopoietic cells.

Function[edit | edit source]

The CEBPA gene provides instructions for making a protein that is involved in the regulation of cell growth and division (proliferation) and the maturation of cells to carry out specific functions (differentiation). This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.

In particular, the CEBPA protein is critical for the development of several types of white blood cells (leukocytes) in the immune system. It promotes the formation and differentiation of myeloid cells, which include granulocytes, monocytes, and related cell types.

Clinical significance[edit | edit source]

Mutations in the CEBPA gene are associated with a form of leukemia known as acute myeloid leukemia (AML). These mutations are usually acquired during a person's lifetime and are present only in certain cells. This type of genetic change, called a somatic mutation, does not occur in every cell. When it does occur, it can give rise to cancer or other diseases.

Acute myeloid leukemia is a type of cancer that starts in the bone marrow's blood-forming cells. The mutations in the CEBPA gene that cause AML prevent the production of functional CEBPA protein, which impairs the development of myeloid cells and leads to the accumulation of immature, abnormal white blood cells.