CEBPA : CCAAT enhancer binding protein alpha

Description

The CEBPA (CCAAT enhancer binding protein alpha) is a protein-coding gene located on chromosome 19.

The CEBPA gene provides instructions for making a protein called CCAAT enhancer-binding protein alpha. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity (expression) of certain genes. CCAAT enhancer-binding protein alpha is involved in the maturation (differentiation) of certain blood cells. It is also believed to act as a tumor suppressor, which means that it is involved in cellular mechanisms that help prevent the cells from growing and dividing too rapidly or in an uncontrolled way.

CEBPA is a transcription factor that plays a crucial role in regulating cell proliferation and differentiation. It coordinates the transition of myeloid progenitors into granulocyte/monocyte progenitors, and is essential for the development of adipocytes, hepatocytes, lung, and placenta. It binds to specific DNA sequences and acts as an activator for target genes. CEBPA is also involved in the regulation of energy homeostasis and lipid storage. It interacts with various other transcription factors and modulators to fine-tune its function in different tissues and developmental stages. CEBPA promotes cell differentiation by repressing E2F1, which is a key regulator of cell proliferation, and also requires a functional interaction with the SWI/SNF complex for effective proliferation arrest. In the liver, CEBPA regulates gluconeogenesis and lipogenesis by cooperating with FOXO1 and SREBF1, respectively, to activate specific target genes.

CEBPA is also known as C/EBP-alpha, CEBP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing