CFTRgeeni
CFTRgeeni, also called the CFTR gene, encodes the CFTR protein, a chloride and bicarbonate channel of epithelial cells. Located on chromosome 7q31.2, the CFTRgeeni is part of the ATP-binding cassette (ABC) transporter family. The CFTR protein is activated by phosphorylation and uses ATP to transport anions across cell membranes, contributing to the hydration of airway surfaces and the viscosity of mucus. It is expressed in the lung, pancreas, intestine, sweat glands, and other tissues, where it helps regulate fluid and electrolyte balance.
Mutations in the CFTRgeeni cause cystic fibrosis and related disorders. The disease is inherited in an autosomal
Diagnosis typically involves genetic testing for CFTRgeeni mutations, complemented by a sweat chloride test when cystic
Treatment includes airway clearance and nutritional support, with mutation-specific CFTR modulators that improve CFTR function. Examples
Historically, the CFTRgeeni was linked to cystic fibrosis in the late 1980s with the identification of the