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URL of this page: https://medlineplus.gov/genetics/gene/cebpa/

CEBPA gene

CCAAT enhancer binding protein alpha

Normal Function

The CEBPA gene provides instructions for making a transcription factor, which is a protein that binds to specific regions of DNA and helps control the activity (expression) of other genes. Specifically, the CEBPA protein plays a key role in regulating the development and maturation (differentiation) of certain white blood cells called granulocytes. These cells play an important role in the immune system, where they help fight infection and control inflammation.

Health Conditions Related to Genetic Changes

Cytogenetically normal acute myeloid leukemia

Genetic changes that contribute to disease are called pathogenic variants. Pathogenic variants in the CEBPA gene are common in people with a form of acute myeloid leukemia (AML) known as cytogenetically normal acute myeloid leukemia (CN-AML). AML is a cancer of the blood and blood-forming tissue (bone marrow). People with CN-AML do not appear to have the large chromosomal abnormalities that are sometimes involved in the development of AML. Five to 14 percent of people with CN-AML have a pathogenic variant in the CEBPA gene.

The pathogenic variants in the CEBPA gene that are associated with CN-AML are typically not inherited (somatic). In the rare cases where CN-AML is associated with inherited CEBPA gene variants, which are present in virtually all of the body's cells, CN-AML is called familial acute myeloid leukemia with mutated CEBPA (see below). Cases of CN-AML that are associated with somatic CEBPA gene variants, which are only present in cancer cells, are often called sporadic CEBPA-associated acute myeloid leukemia.

Cases of AML that are associated with pathogenic variants in the CEBPA gene can be further classified depending on the type of variant and its location within the CEBPA gene. This information can be used to assess an individual’s risk of developing AML and to predict the course and outcome (prognosis) of their cancer.

More About This Health Condition

Familial acute myeloid leukemia with mutated CEBPA

Inherited pathogenic variants in the CEBPA gene increase the risk of developing AML in people with familial acute myeloid leukemia with mutated CEBPA. People with this condition have one normal copy of the CEBPA gene and one copy of the gene with the inherited variant in virtually all of their cells. These variants typically cause cells to make a shorter version of the CEBPA protein. These shorter proteins likely interfere with the production of the normal protein produced from the second copy of the gene. A lack of normal CEBPA proteins disrupts the regulation of granulocytes and leads to the overproduction of abnormal cells that is seen in people with familial acute myeloid leukemia with mutated CEBPA.

Typically, to develop AML, people with familial acute myeloid leukemia with mutated CEBPA also need a pathogenic variant in the second copy of the CEBPA gene in each cell. This variant is somatic and is only found in cancer cells. These somatic CEBPA gene variants generally impair the function of the CEBPA protein. Studies suggest that this second pathogenic variant may affect the normal differentiation of granulocytes, although the exact mechanism is unclear. While affected individuals within the same family typically have the same inherited CEBPA variant, the somatic CEBPA variant may differ. The likelihood that a person with an inherited pathogenic CEBPA variant will develop AML ranges from 50 percent to greater than 80 percent, depending on the specific variant.

More About This Health Condition

Other Names for This Gene

  • C/EBP-alpha

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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