LOC100288152
Description of loc100288152
loc100288152, also known as the "cystic fibrosis transmembrane conductance regulator" (CFTR) gene, is a vital gene that plays a crucial role in regulating the flow of salt and water across cell membranes. This gene encodes the CFTR protein, which is found in epithelial cells throughout the body, particularly in the lungs, pancreas, and intestines.
The CFTR protein functions as a chloride channel, allowing chloride ions to move across cell membranes. This process is essential for maintaining proper hydration and viscosity of various fluids, including mucus and sweat. Mutations in the loc100288152 gene can lead to the production of a defective or non-functional CFTR protein, resulting in an imbalance of chloride transport.
Associated Diseases
Mutations in the loc100288152 gene are primarily associated with cystic fibrosis (CF), a genetic disorder that affects multiple organs. CF is characterized by the production of thick, sticky mucus that obstructs the airways and other organs, leading to respiratory infections, digestive problems, and other complications.
Did you Know ?
Approximately 1 in 2,500 newborns in the United States is born with CF, making it one of the most common life-threatening genetic diseases among Caucasians. However, the incidence of CF varies widely depending on ethnic background, with a higher prevalence in certain populations, such as Ashkenazi Jews and certain Native American tribes.
