Which human chromosome contains the CFTR gene associated with cystic fibrosis?

The CFTR gene associated with cystic fibrosis is located on human chromosome 7.

CFTR encodes a membrane protein that functions as an ion channel, helping regulate chloride and bicarbonate movement across epithelial surfaces. Variants that impair CFTR activity can produce thick, unusually sticky secretions affecting the lungs, pancreas, digestive system, and other organs.

The gene is located at 7q31.2, on the long arm of chromosome 7. The common F508del variant removes phenylalanine at position 508, but cystic fibrosis can result from many different CFTR variants.

Cystic fibrosis is inherited in an autosomal recessive pattern. A person generally must inherit a disease-causing variant from both parents to develop the condition; carriers typically have one working copy and one altered copy.