CEBPE

CEBPE is a gene that encodes a transcription factor in the C/EBP family of proteins. This protein plays a crucial role in the regulation of gene expression and is involved in the differentiation and function of neutrophil granulocytes, a type of white blood cell that plays a key role in the immune response.

Function

The CEBPE gene encodes a protein that is a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and liver activator protein (LAP), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is active in the peripheral nervous system, and is known to bind to a specific promoter in the insulin gene.

Clinical significance

Mutations in the CEBPE gene are associated with specific granule deficiency (SGD), a rare congenital disorder characterized by recurrent infections. SGD is caused by a lack of specific granules in neutrophil granulocytes, leading to a reduced ability to fight off infections.

Research

Research into the CEBPE gene and its associated protein may provide insights into the mechanisms of transcriptional regulation, cell differentiation, and other biological processes. It may also lead to new treatments for conditions associated with mutations in this gene, such as SGD.

See also

• CCAAT/enhancer-binding proteins
• Specific granule deficiency
• Transcription factor
• Neutrophil granulocytes