Gene CFTR

Also known as

CF, MRP7, ABC35, ABCC7, CFTR/MRP

Overview

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) encodes a chloride and bicarbonate ion channel that regulates fluid secretion in epithelial tissues throughout the body. Proper CFTR function is essential for maintaining the fluid balance of secretions in the lungs, pancreas, intestines, sweat glands, and reproductive tract.

Mutations in CFTR cause cystic fibrosis (CF), the most common severe autosomal recessive disorder in people of European descent. CF is characterized by thick, sticky mucus production leading to chronic lung infections, pancreatic insufficiency, and other complications. The most common mutation, F508del, accounts for approximately 70% of CF alleles. Carrier frequency in European populations is approximately 1 in 25.

Major advances in CFTR-targeted therapies have transformed CF treatment, with modulator drugs that improve CFTR function now available for many genotypes. Understanding your CFTR genetic status is important for carrier screening, early diagnosis, and selecting appropriate treatments.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report
• Whole Genome Sequencing True Pharmacogenetics Panel

Upload raw DNA data to get your very own analysis of gene CFTR through your personalized DNA reports.