CFTR (CFTR, Cystic Fibrosis Transmembrane Conductance Regulator)

Cystic fibrosis (CF) is a multisystem disease with autosomal recessive inheritence, affecting the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF mainly affects the lungs and pancreas, but also the upper airways, liver, intestine, and reproductive organs.
Currently, more than 2000 germline sequence variants of the CFTR gene have already been identified, though not all result in CF.