CFTR

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) is a unique ABC transporter family member that functions as a phosphorylation- and ATP-regulated anion channel rather than an active pump. It primarily conducts chloride and bicarbonate ions across epithelial cell apical membranes, playing critical roles in fluid secretion and mucociliary clearance in airways, digestive enzyme secretion in pancreas, and salt balance in sweat glands. CFTR requires PKA phosphorylation of its regulatory R domain and ATP binding/hydrolysis at its nucleotide-binding domains for channel gating. Loss-of-function mutations cause cystic fibrosis, characterized by thick mucus in lungs, pancreatic insufficiency, elevated sweat chloride, and male infertility due to vas deferens absence. The most common mutation is ΔF508, which causes protein misfolding and ER retention. CFTR also regulates other ion channels including ENaC and interacts with SLC26 anion exchangers to coordinate epithelial ion transport.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

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