🧭 Vista Guiada É novo em genética? Explicamos cada termo à medida que navega, em linguagem simples. As mesmas páginas, com a ajuda integrada.
⚡ Opinião de Especialista Você já conhece a biologia. Apenas o conteúdo — limpo e compacto, sem explicações extras. Esta é a visualização padrão.
Idioma da interface
Modo claro
Gene · 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
Apenas esquemático — as proporções dos braços são aproximadas e o detalhe das bandas não está à escala. Localização citogenética conforme publicada pelo NCBI Gene.
O que esse gene faz
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
Connected in the Atlas
Every entry on this site is linked to the others it relates to. These connections are part of the record, not a search result.