Function
The protein regulates transport of bicarbonate and chloride ions.
Disease
When the protein isn't functional it causes Cystic Fibrosis (CF). The gene is autosomal recessive. CF prevents successful excretion of wastes in many organs. Less functional proteins may result in sterility in males.
Relevance
The protein is crucial for ion circulation in epithelial cells, with lack of function leading to serious disease.
Structural highlights
The nbd1 domain is altered in CF patients, due to deletion of residue Phe-508 which results in a severe loss of function.
