In cystic fibrosis, transmembrane conductance regular gene on chromosome
[Cl (7) (490-Robbins Pathologic Basis of disease 7th) (264-Basic pathology 8th)* The primary defect in cystic fibrosis results from abnormal function of an epithelial chloride channel protein encoded by the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome band 7 q 13.2* CFTR regulates multiple additional ion channels and of cellular processes.* The function CFTR are tissue specific; therefore impact of a mutation in CFTR is also tissue specific. The major function of CFTR in the sweat gland ducts to reabsorb luminal chloride ions and augment sodium reabsorption via the ENaC* Cystic fibrosis modifier locus (CFM1) which influences the incidence and severity of meconium ileus has been recently mapped to chromosome 19 q13
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Genetics