Fibrosis (FIBROSIS QUISTICA) " THE PROTEIN IS IN YOUNG HUMAN PLASMA IN SUFFICIENT AMOUNT "CFTR",

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) is a Protein Coding gene. Diseases associated with CFTR include Cystic Fibrosis and Vas Deferens, Congenital Bilateral Aplasia Of. Among its related pathways are Bacterial infections in CF airways and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include enzyme binding and PDZ domain binding. An important paralog of this gene is ABCC4.

Ivacaftor [VX-770; N-(2,4-Di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide] is one of the first drugs developed to treat an underlying cause of cystic fibrosis (CF) rather than the symptoms. It is a selective small molecule potentiator of the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR). Potentiators are a new drug class of CFTR modulators designed to restore CFTR function [Article:24656117]. The Food and Drug Administration (FDA) has granted ivacaftor orphan drug status because it is indicated in a subset of patients with particular CFTR variants, specifically class III variants. Approximately 30,000 people have CF in the United States, which is below the 200,000 patient threshold for orphan drugs in the United States [Article:24656117].

CF is an autosomal recessive disorder characterized by sweat chloride concentration above 60 mmol/L, leading to progressive obstructive lung disease and premature mortality, as well as problems in the liver, pancreas, vas deferens, and intestine [Article:24534272]. CF affects approximately 70,000 people worldwide, including approximately 1 of every 3500 infants born in the United States [Article:23457166], and is caused by inheriting two detrimental copies of the CFTR gene (Cystic Fibrosis

Foundation). The CFTR protein is a chloride channel, which maintains ion and water balance intra- and extra-cellularly [Article:24561283]. The channel opens and closes through ATP binding, hydrolysis, and phosphorylation, which changes the protein conformation to allow chloride ions to flow through the ion gradient between the intracellular and extracellular regions [Article:24534272]. Defective CFTR function prevents the flow of chloride ions across epithelial cells, which leads to the mucus buildup, infection, inflammation, and progressively decreasing lung function that is characteristic of cystic fibrosis [Article:24561283].