From the Guidelines
The CFTR gene is located on the long arm of chromosome 7 in humans. This location is critical for understanding the genetic basis of cystic fibrosis, a disease caused by mutations in the CFTR gene 1. The CFTR protein, encoded by this gene, is a chloride channel that plays a vital role in regulating the movement of salt and water across epithelial cell membranes.
Key Points About CFTR Location and Function
- The CFTR gene is situated on the long arm of chromosome 7, which is a key piece of information for genetic testing and diagnosis of cystic fibrosis 1.
- The CFTR protein is highly expressed in various organs, including the intestines, pancreas, lungs, sweat glands, and kidneys, where it functions as an apical membrane Cl− channel controlling epithelial fluid and salt secretion 1.
- Mutations in the CFTR gene, such as the commonly reported F508del mutation, can lead to cystic fibrosis by disrupting the normal functioning of the CFTR protein, resulting in dehydrated, acidic secretions that drive the disease 1.
Clinical Implications
The location and function of CFTR have significant implications for the diagnosis, management, and treatment of cystic fibrosis. Understanding the genetic basis of the disease and the role of CFTR in epithelial cells can inform the development of targeted therapies aimed at correcting the defective chloride channel function or addressing the downstream effects of CFTR mutations 1.
From the Research
Location of CFTR
- CFTR is primarily located at the apical membrane of chloride secretory epithelial cells 2, 3, 4, 5
- It is also present in various intracellular compartments, including:
- CFTR has been implicated in the formation and maintenance of epithelial apical basolateral polarity, and is associated with actin cytoskeleton organization, epithelial cell junctions, and extracellular matrix (ECM) proteins 3