FAT4 gene
The FAT4 gene provides instructions for making a protein essential for the development of the brain, kidneys, heart, and lymphatic system.
Normal Function
The FAT4 gene provides instructions for making a protein that plays an important role in the development of the brain, kidneys, and heart. The FAT4 protein is also important for the proper development and function of the lymphatic system, which is a network of vessels that transport white blood cells (lymphocytes), nutrients, and proteins in a fluid called lymph.
Research suggests that the FAT4 protein is involved in determining the position of cells and their components within various tissues. Proper cell positioning within a tissue allows cells to coordinate their activity and helps determine tissue structure and function.
The FAT4 protein may also act as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way.
Health Conditions Related to Genetic Changes
Hennekam syndrome
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the FAT4 gene have been found to cause Hennekam syndrome, an inherited disorder characterized by abnormalities of the lymphatic system. People with Hennekam syndrome often have lymphatic vessels that are dilated (lymphangiectasia) and an accumulation of lymph (lymphedema) in various tissues.
The pathogenic FAT4 gene variants that cause Hennekam syndrome interfere with the production of functional FAT4 proteins, which likely impairs the proper positioning of cells within the developing lymphatic vessels. This leads to a disruption in the formation and function of these vessels, resulting in the lymphangiectasia and lymphedema seen in people with Hennekam syndrome.
Other disorders
Pathogenic variants in the FAT4 gene have also been found in individuals who have van Maldergem syndrome, a condition characterized by intellectual disabilities, hearing loss, skeletal abnormalities, and a brain malformation called periventricular heterotopia. In people with periventricular heterotopia, nerve cells do not migrate properly during early brain development. The pathogenic FAT4 gene variants that cause van Maldergem syndrome decrease the activity of the FAT4 protein, which likely disrupts the positioning of cells within the developing brain and other tissues.
Pathogenic FAT4 gene variants have also been found in people with many types of cancers, including cancers of the pancreas, stomach, and brain. Many of the pathogenic FAT4 gene variants involved in these cancers are somatic, which means that they occur during a person's lifetime and are only found in certain cells. It is likely that these variants prevent the FAT4 protein from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells that is characteristic of cancer.
Other Names for This Gene
- cadherin-related family member 11
- CDHF14
- CDHR11
- FAT-J