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. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.
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
Dec 7, 2024 · Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation.
About Cystic Fibrosis - National Human Genome Research Institute
Dec 27, 2013 · To develop CF, a child must inherit a defective gene from both parents. If both parents are carriers, there is a 25 percent chance that each child they conceive will have CF, and a 50 percent chance that the child will be a carrier.
Cystic Fibrosis - StatPearls - NCBI Bookshelf - National Center …
Dec 11, 2024 · Cystic fibrosis is caused by over 2,000 possible mutations in the CFTR gene, each disrupting chloride ion transport, leading to thick mucus accumulation, organ dysfunction, and electrolyte imbalances. Symptoms may appear in infancy, childhood, or adulthood, with newborn screening and genetic testing aiding early diagnosis.
Cystic Fibrosis (CF) Causes: How CF Is Genetically Inherited
People with cystic fibrosis received two copies of a recessive gene that causes mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Molecular mechanisms of cystic fibrosis – how mutations lead to ...
Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a cAMP-activated chloride and bicarbonate channel that regulates ion and water transport in secretory epithelia.
A review of cystic fibrosis: Basic and clinical aspects - PMC
Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). We summarize clinical and genetic characteristics of cystic fibrosis gene mutations, as well as animal models used to study human cystic fibrosis disease.
Cystic Fibrosis Causes - NHLBI, NIH
Nov 15, 2024 · Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Inheriting two mutated genes causes cystic fibrosis.
Cystic fibrosis - Genes and Disease - NCBI Bookshelf
Jan 31, 2011 · CF is caused by a defective gene, which codes for a chloride transporter found on the surface of the epithelial cells that line the lungs and other organs. Several hundred mutations have been found in this gene, all of which result in defective transport of chloride, and secondarily sodium, by epithelial cells.