| Gene Symbol |
CFTR
|
| Gene Synonyms |
CF MRP7 ABC35 ABCC7 CFTR/MRP TNR-CFTR dJ760C5.1 |
| Gene Full Name |
CF transmembrane conductance regulator |
| Gene Summary |
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017] |
| Alternative Names |
ABC 35 ABC35 ABCC 7 ABCC7 ATP binding cassette sub family C member 7 ATP Binding Cassette Superfamily C Member 7 ATP binding cassette transporter sub family C member 7 ATP-binding cassette sub-family C member 7 cAMP dependent chloride channel cAMP-dependent chloride channel CF CFTR CFTR/MRP CFTR_HUMAN Channel conductance controlling ATPase Channel conductance-controlling ATPase Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub family C member 7) Cystic fibrosis transmembrane conductance regulator Cystic fibrosis transmembrane conductance regulator ATP binding cassette sub family C member 7 Cystic Fibrosis Transmembrane Regulator dJ760C5.1 MRP 7 MRP7 TNR CFTR |
| Molecular Weight(MW) |
168 kDa |
| Cellular Localization |
Cell membrane,Endoplasmic reticulum,Endosome,Membrane,Nucleus. |