FAT1
FAT Atypical Cadherin 1 (FAT1) is a protein that in humans is encoded by the FAT1 gene. This gene is a member of the FAT family of proteins, which are a subclass of cadherins. Cadherins are a class of type I transmembrane proteins that play a crucial role in cell adhesion, ensuring that cells within tissues are bound together. FAT1 is particularly significant in the regulation of cell growth, actin polymerization, and cell migration, which are essential processes in the development and maintenance of tissues.
Function[edit | edit source]
FAT1 is involved in several key cellular processes, including the regulation of cell proliferation, adhesion, and polarity. It acts by binding to beta-catenin, a central player in the Wnt signaling pathway, which is critical for the regulation of gene expression, cellular growth, and the development of many organisms. FAT1's role in actin cytoskeleton dynamics is also notable, as it participates in the formation of filopodia, which are slender cytoplasmic projections that play a role in sensing the cellular environment and in cell migration.
Clinical Significance[edit | edit source]
Alterations in the FAT1 gene have been implicated in a variety of human diseases, including cancer. Mutations or changes in the expression of FAT1 have been observed in several types of cancer, such as head and neck squamous cell carcinoma, colorectal cancer, and glioblastoma. These alterations can lead to disrupted cell adhesion and increased cell migration, contributing to the invasive and metastatic characteristics of cancer cells. Furthermore, FAT1 has been studied for its potential role in developmental disorders, given its importance in cell growth and tissue formation.
Genetic[edit | edit source]
The FAT1 gene is located on the long (q) arm of chromosome 4 at position 28, designated as 4q28. It spans over 150 kilobases and consists of multiple exons. The FAT1 protein is one of the largest cadherins, containing several cadherin repeats, which are essential for its function in cell adhesion.
Research Directions[edit | edit source]
Research on FAT1 is ongoing, with studies focusing on its role in cancer progression and its potential as a therapeutic target. Understanding the molecular mechanisms by which FAT1 influences cell behavior and how its dysfunction contributes to disease may lead to the development of new therapeutic strategies for cancer and other conditions associated with FAT1 alterations.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD