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Where is the CFTR gene located?
GeneticsMedical genetics
Quick Answer
The CFTR gene is located on chromosome 7. Mutations in this gene cause cystic fibrosis.
The Full Story
CFTR is a gene in the human nuclear genome on chromosome 7. It encodes a protein that functions as a chloride channel in epithelial cells, helping regulate salt and water movement. Mutations in CFTR can lead to cystic fibrosis, a serious inherited disorder affecting the lungs and digestive system. The most common disease-causing variant in many populations is ΞF508.
Key Facts
1.Located on chromosome 7
2.Encodes a chloride channel
3.Mutations cause cystic fibrosis
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"The chromosome location of the gene behind cystic fibrosis."