Rabbit anti-Human CFTR Polyclonal Antibody

Uniprot Id

P13569

Target Species

Human

Target Name

CFTR

Target Full Name

Cystic fibrosis transmembrane conductance regulator

Target Function

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex. Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Target Involvement

Cystic fibrosis (CF); Congenital bilateral absence of the vas deferens (CBAVD)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus.

Target Protein Families

ABC transporter superfamily, ABCC family, CFTR transporter (TC 3.A.1.202) subfamily

Target Tissue Specificity

Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated

Target Synonyms

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

Target Background

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.