What is the function of the protein which causes cystic fibrosis?
Cystic fibrosis is an autosomal recessive genetic disorder that is characterized by mutations in the gene for the CFTR protein (cystic fibrosis transmembrane conductance regulator). With two copies of the mutated gene, many body secretions become thicker than normal. Many organs in the body have narrow passageways, and if secretions are thicker than normal it can impede normal body functions. This can have detrimental effects in the respiratory, digestive, excretory, endocrine, and reproductive systems.
Answer and Explanation:
The CFTR protein is located in cell membranes. It is a channel that controls water and chloride ion flow into and out of the cell. Functioning normally, CTFR will allow ions to pass across the membrane freely. In individuals with mutations in both copies of the CTFR gene, the channel is blocked, and chloride ions cannot exit the cell.
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from Pathophysiology TextbookChapter 9 / Lesson 16