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cystic fibrosis transmembrane conductance regulator
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel in vertebrates that is encoded by the ''CFTR'' gene.
CFTR is an ABC transporter-class ion channel that codes for a protein that conducts chloride and thiocyanate ions across epithelial cell membranes. Mutations of the CFTR gene affecting chloride ion channel function lead to dysregulation of epithelial fluid transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens and epididymis appear to result from abnormal intraluminal secretions, causing congenital absence of the vas deferens and male infertility.
== Gene ==
The gene that encodes the human CFTR protein is found on chromosome 7, on the long arm at position q31.2.〔 from base pair 116,907,253 to base pair 117,095,955. CFTR orthologs occur in the jawed vertebrates.
The ''CFTR'' gene has been used in animals as a nuclear DNA phylogenetic marker.〔 Large genomic sequences of this gene have been used to explore the phylogeny of the major groups of mammals, and confirmed the grouping of placental orders into four major clades: Xenarthra, Afrotheria, Laurasiatheria, and Euarchonta plus Glires.
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