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CFTR Gene

Definition

The CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene provides instructions for the CFTR protein, which functions as a channel across the membrane of cells producing mucus, sweat, saliva, tears and digestive enzymes. Mutations in this gene can lead to cystic fibrosis.

Analogy

Think of the CFTR gene like a traffic director at a busy intersection. When it's working properly, it ensures that chloride ions move smoothly in and out of our cells. But if there's a mutation or 'traffic director' is not doing its job correctly, things get backed up causing thick mucus build-up - just like how traffic would pile up at an intersection without proper direction.

Related terms

Mutation: A change in the DNA sequence that can lead to different variations of genes and can sometimes cause diseases.

Ion Channel: A complex of protein molecules in a cell membrane that form a pore through which ions can pass.

Cystic Fibrosis: A genetic disorder affecting mostly the lungs but also the pancreas, liver, kidneys and intestine. It's caused by mutations in the CFTR gene.