CFTR gene

The CFTR gene provides instructions for making a protein that functions as a channel across cell membranes, regulating the movement of chloride ions and water in tissues.

Normal Function

The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues.

The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.

Health Conditions Related to Genetic Changes

Congenital bilateral absence of the vas deferens

About 80 CFTR mutations have been identified in males with congenital bilateral absence of the vas deferens. Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky, which clogs the tubes that carry sperm (the vas deferens), causing them to deteriorate before birth.

Cystic fibrosis

More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Disease-causing mutations alter the production, structure, or stability of the chloride channel, preventing it from functioning properly. This impairs the transport of chloride ions and the movement of water, causing cells that line the passageways of the lungs, pancreas, and other organs to produce mucus that is abnormally thick and sticky, which obstructs the airways and glands.

Hereditary pancreatitis

MedlinePlus Genetics provides information about Hereditary pancreatitis.

Other disorders

A few mutations in the CFTR gene have been identified in people with isolated problems affecting the digestive or respiratory system, including:

• Idiopathic pancreatitis: Inflammation of the pancreas causing abdominal pain, nausea, vomiting, and fever.
• Rhinosinusitis: Chronic inflammation of the tissues that line the sinuses.
• Respiratory problems: Conditions including bronchiectasis and allergic bronchopulmonary aspergillosis.

Other Names for This Gene

• ABC35
• ABCC7
• cAMP-dependent chloride channel
• CF
• CFTR_HUMAN
• cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
• cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
• MRP7

Genomic Location

The CFTR gene is found on chromosome 7.