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Human CFTR Stable Cell Line-HEK293

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Cat.No.
CSC-RI0003
Background
The cystic fibrosis transmembrane conductance regulator (CFTR) is an ion channel that once phosphorylated by PKA is gated by ATP binding and hydrolysis. When open, this channel allows chloride ion flux. The CFTR gene was cloned and has been of interest as a therapeutic target since the first observation that a nucleotide substitution found in patients with cystic fibrosis encodes for a trafficking-deficient mutant channel termed DeltaF508. To date, at least 136 allelic variants of CFTR have been associated with patients that have cystic fibrosis. The CFTR ion channel is expressed in the respiratory tract, sweat glands, intestinal tissue, and pancreas, and decreased surface expression or function of mutant channels in these tissues is consistent with disease symptoms. To date, specific activators and trafficking modulators that normalize surface expression and function toward wild-type levels have shown promise as therapies for cystic fibrosis.
Growth Properties
Adherent
Morphology
Epithelial
Host Cell
HEK293
Ship
Dry ice
Gene Information
Official Symbol
CFTR
Synonyms
CFTR; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); ABCC7, CF, cystic fibrosis transmembrane conductance regulator, ATP binding cassette (sub family C, member 7); cystic fibrosis transmembrane conductance regulator; ABC35; ATP binding cassette sub family C; member 7; CFTR/MRP; dJ760C5.1; MRP7; TNR CFTR; cAMP-dependent chloride channel; channel conductance-controlling ATPase; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; CF; ABCC7; TNR-CFTR;
Gene ID
MIM
UniProt ID
P13569
Chromosome Location
7q31-q32
Pathway
ABC transporters, organism-specific biosystem; ABC transporters, conserved biosystem; ABC-family proteins mediated transport, organism-specific biosystem; Bile secretion, organism-specific biosystem; Bile secretion, conserved biosystem; Gastric acid secretion, organism-specific biosystem; Gastric acid secretion, conserved biosystem;
Function
ATP binding; ATP-binding and phosphorylation-dependent chloride channel activity; ATPase activity; PDZ domain binding; channel-conductance-controlling ATPase activity; chloride channel activity; enzyme binding; hydrolase activity; ion channel activity; nucleotide binding; protein binding;

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