Cftr - CF transmembrane conductance regulator

Predicted to enable several functions, including PDZ domain binding activity; Sec61 translocon complex binding activity; and anion transmembrane transporter activity. Involved in several processes, including animal organ development; anion transport; and regulation of cell development. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and microvillus. Colocalizes with early endosome. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Apr 2022]