CFTR
Noun
Meaning
the gene that is mutated in cystic fibrosis
Source: WordNetSynonyms
Hypernyms
Phrases with the word
Examples
CF develops when neither allele can produce a functional CFTR protein.
CFTR not only allows chloride ions to be drawn from the cell and into the ASL, but it also regulates another channel called ENac, whichallows sodium ions to leave the ASL and enter the respiratory epithelium.
For example, cystic fibrosis is caused by mutations in the CFTR gene, and is the most common recessive disorder in caucasian populations with over 1,300 different mutations known.
It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
However, when the CFTR protein is malfunctioning, these ions cannot flow out of the cell due to a blocked channel.
If testing shows that parent is a CFTR gene mutation carrier, the other parent is tested to calculate the risk that their children will have CF.