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Gen · Respiratory
CFTR
Cystic fibrosis transmembrane conductance regulator — Encodes a chloride channel in cell membranes; when it fails, secretions across the body become abnormally thick.
7q31.2lungchannel
Alleen schematisch — de verhoudingen van de armen zijn bij benadering en de banddetails zijn niet op schaal getekend. Cytogenetische locatie zoals gepubliceerd door NCBI Gene.
Wat dit gen doet
CFTR makes a gate in the surface of cells that lets chloride out, and water follows the chloride. When the gate is broken or missing, mucus loses its water and becomes thick and sticky — clogging the lungs, blocking the pancreas and affecting the gut. Around 90 per cent of people with cystic fibrosis carry at least one copy of the same variant, F508del.
CFTR, at 7q31.2, encodes an ATP-gated chloride and bicarbonate channel. Over 2,000 variants are described; F508del, a three-base deletion causing protein misfolding and degradation, is present on roughly 70 per cent of CF alleles. Modulator therapies rescue trafficking and gating for responsive genotypes; nonsense and rare variants producing no protein remain unaddressed, which is the population editing approaches target.
Sources
MedlinePlus Genetics, U.S. National Library of Medicine CFTR gene ↗
Written by The CRISPR Atlas editorial teamLast updated Aug 19, 2026
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