CFTR - Johns Hopkins Cystic Fibrosis Center
The cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate.
Basics of the CFTR Protein - Cystic Fibrosis Foundation
The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. The CFTR protein is a particular type of protein called an ion channel.
CF Genetics: The Basics - Cystic Fibrosis Foundation
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.
Cystic fibrosis - Symptoms and causes - Mayo Clinic
2021年11月23日 · In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells.
Cystic fibrosis transmembrane conductance regulator
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis). [7]
Cystic Fibrosis - GeneReviews® - NCBI Bookshelf
2001年3月26日 · The diagnosis of CF is established in a proband with (1) elevated immunoreactive trypsinogen on newborn screen, signs and/or symptoms suggestive of CF, or family history of CF; AND (2) evidence of an abnormality in cystic fibrosis transmembrane conductance regulator (CFTR) function: sweat chloride ≥60 mmol/L on sweat chloride testing ...
Types of CFTR Mutations - Cystic Fibrosis Foundation
There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) - Healthline
2023年4月25日 · What Is Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)? CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic...
The Clinical Biology of Cystic Fibrosis Transmembrane Regulator Protein
Normal cystic fibrosis (CF) transmembrane regulator (CFTR) protein has multiple functions in health and disease. Many mutations in the CFTR gene produce abnormal or absent protein. CFTR protein dysfunction underlies the classic CF phenotype of ...
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis …
Abstract. Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of molecular diagnosis of CF and CFTR-related disorders and of genetic counseling are here reviewed.