Catalytic activity:ATP + H (2) O = ADP + phosphate. ,Disease:Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis , as the majority of men suffering from cystic fibrosis lack the vas deferens. ,Disease:Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population , with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections) , pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. ,Domain:The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7 , SLC9A3R1/EBP50 complex. ,Function:Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. ,online information:CFTR entry ,online information:Cystic fibrosis mutation db ,PTM:Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. ,similarity:Belongs to the ABC transporter family. ,similarity:Belongs to the ABC transporter family. CFTR transporter (TC 3.A.1.202) subfamily. ,similarity:Contains 2 ABC transmembrane type-1 domains. ,similarity:Contains 2 ABC transporter domains. ,subunit:Interacts with SHANK2 (By similarity) . Interacts with SLC9A3R1 , MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. ,tissue specificity:Found on the surface of the epithelial cells that line the lungs and other organs. ,
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