| Gene Symbol |
CFTR
|
| Gene Synonyms |
ABC35 ABCC7 CF CFTR/MRP dJ760C5.1 MRP7 RGD1561193 TNR-CFTR |
| 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 |
ATP Binding Cassette Superfamily C Member 7 (ABCC7) ATP-binding cassette sub-family C member 7 ATP-binding cassette transporter sub-family C member 7 ATP-binding cassette subfamily c member 7 cAMP-dependent chloride channel channel conductance-controlling ATPase cystic fibrosis transmembrane conductance regulating cystic fibrosis transmembrane conductance regulator cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C member 7) cystic fibrosis transmembrane conductance regulator homolog cystic fibrosis transmembrane conductance regulator homolog ATP-binding cassette subfamily c member 7 cystic fibrosis transmembrane conductance regulator isoform ion channel tcag7.78 TNR CFTR |
| Molecular Weight(MW) |
168kDa(observed:124kDa) |
| Source |
Rabbit |
| Cellular Localization |
Apical cell membrane;Early endosome membrane;Cell membrane;Recycling endosome membrane;Endoplasmic reticulum membrane;Nucleus |