CFTRlokus

The CFTR locus refers to the specific chromosomal location where the CFTR gene is found. The CFTR gene, which stands for Cystic Fibrosis Transmembrane conductance Regulator, is responsible for producing a protein that functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. This protein regulates the movement of chloride ions into and out of cells. The CFTR locus is located on the long arm of chromosome 7, specifically at position 7q31.2. Mutations in the CFTR gene, and thus alterations at the CFTR locus, are the underlying cause of cystic fibrosis (CF), a genetic disorder that affects multiple organs, particularly the lungs and digestive system. The human genome contains this locus, and its precise mapping is crucial for genetic research, diagnostic testing, and the development of gene-targeted therapies for cystic fibrosis. Understanding the CFTR locus and the variations within it is fundamental to comprehending the genetic basis of CF and advancing treatments.