CFTR Mutations and Activity: The clinical impact of reduced CFTR activity
The potential clinical impact of an individual CFTR mutation may be related to the amount of total CFTR ion transport activity. Total CFTR activity is associated with the extent of CF manifestations and phenotypic variability.1-5
Spectrum of phenotypes associated with total CFTR activity1,3-5
Total CFTR activity is a function of how each CFTR mutation affects6:
- CFTR quantity: the number of CFTR channels at the cell surface
- CFTR function: the functional ability of each channel to open and transport ions
Individual CFTR mutations can decrease the quantity or function (and sometimes both) of CFTR proteins at the cell surface. These defects in CFTR protein cause a reduction in total CFTR activity.1,6,7
CFTR quantity and function defects reduce total CFTR activity1,6
To what extent do different CFTR mutations affect total CFTR activity? Learn more.
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