The cftr gene encodes an anion channel protein localized to the apical membrane of epithelial cells. It facilitates chloride ion transport and regulates fluid secretion in tissues including the skin, g...[+]

The cftr gene encodes an anion channel protein localized to the apical membrane of epithelial cells. It facilitates chloride ion transport and regulates fluid secretion in tissues including the skin, gut, kidney, and lung. Expression is detected in the epidermis, pronephros, ductus arborisations, and the intestinal tube. [-]

             pancreatitis
             bronchiectasis
             autosomal recessive congenital bilateral absence of vas deferens

          CYSTIC FIBROSIS; CF
          VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
          BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD