ATBF1

ATBF1 (AT motif Binding Factor 1), also known as ZEB2 (Zinc finger E-box-binding homeobox 2), is a protein that in humans is encoded by the ZEB2 gene. This gene plays a crucial role in the development and function of the nervous system, as well as in the regulation of epithelial-mesenchymal transition (EMT), a process implicated in cancer progression and metastasis. ATBF1 is a transcription factor that can act both as a repressor and an activator of gene expression, depending on the context of its interaction with other molecular components within the cell.

Function

ATBF1 is involved in several key biological processes, including neural development, cell differentiation, and the maintenance of cell polarity. It is known for its role in the repression of E-cadherin, a cell-cell adhesion molecule, thereby promoting EMT and affecting tumor invasiveness and metastatic potential. In the nervous system, ATBF1 contributes to the specification of neuronal cell identity and the regulation of neurogenesis.

Genetics

The ZEB2 gene encoding the ATBF1 protein is located on chromosome 2. Mutations in this gene have been associated with Mowat-Wilson syndrome, a rare genetic disorder characterized by distinctive facial features, intellectual disability, and various congenital malformations. These mutations typically result in a loss of function of the ATBF1 protein, underscoring its importance in normal developmental processes.

Clinical Significance

Beyond its role in development, ATBF1 has been implicated in the pathogenesis of several types of cancer, including breast cancer, prostate cancer, and colorectal cancer. Its involvement in EMT makes it a potential target for therapeutic intervention in cancer treatment, aiming to inhibit the metastatic spread of tumor cells.

Research Directions

Current research on ATBF1 is focused on understanding its precise molecular mechanisms of action, its interactions with other proteins and DNA, and how these interactions influence cell behavior in both normal and disease states. There is also significant interest in exploring the potential of ATBF1 as a biomarker for cancer prognosis and as a target for novel cancer therapies.