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This CFTR gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily，an ABC transporter-class ion channel protein that conducts chloride ions across epithelial cell membranes, making it unique among members of this protein family. This protein plays an essential role in anion regulation and tissue homeostasis, controlling ion and water secretion and absorption in epithelial tissues, including the mucosa of the intestinal tract. Chloride channels are a family of anion-selective channels involved in a diverse range of biological processes including the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport, the acidification of intra- and extracellular compartments. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis.
CFTR and Diseases
Mutations in the CFTR gene are causative for cystic fibrosis (CF), the most common autosomal recessive disorder in Caucasians, and 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. Large cohort studies in North American and European patients with CF found that there was a marked increase in the risk of malignancies affecting the gastrointestinal tract, pancreas and hepatobiliary system. CFTR mutations have also been linked to increased risk of various cancers but remained controversial for a long time.
CFTR proteins help maintain fluid balance (cfsource.com.au)
Within the small intestine, CFTR expression is the strongest in the duodenum, including high expression in the mucus and bicarbonate-secreting Brunner’s glands. In the large intestine, CFTR expression is considered moderate. In the gastrointestinal (GI) tract, CFTR promotes chloride and bicarbonate secretion, playing an important role in ion and acid–base homeostasis. Downregulated expression and function of ion channels and transporters is observed in virtually all cancers. Disruption of CFTR function and/or dysregulation of CFTR expression is associated with a wide array of cancers including esophageal, breast, gastric, hepatobiliary, gall bladder, prostate, pancreatic, small intestine and colorectal cancers (CRC). CFTR is a tumor suppressor gene in murine and human intestinal cancer. A study in CF patients revealed an increased risk of digestive tract cancers, with large numbers of cancers detected in the small intestine, colon and biliary tract. Downregulation of CFTR mRNA gene expression was also included in a prognostic predictor gene set for poor disease-free survival (DFS) in CRC. According to another study, early colon screening of adult CF patients revealed a high incidence of colon tumors, especially in males. Overexpression of CFTR suppresses tumorigenic phenotype in prostate cancer cell lines. Recent studies have begun to reveal that CFTR is not merely an ion channel but also an important regulator of cancer development and progression with multiple signaling pathways which has been identified.
CFTR Gene Editing Service
CRISPR/Cas9 PlatformCB, a global leading biotechnological company specializing in gene editing, is dedicated to offering comprehensive CRISPR/Cas9 gene editing services and products for academic research, biotech research and pharmaceutical drug discovery. With deep gene editing knowledge and extensive experience in experimental operation and data processing, we help you effectively control target genes knockout/knockin/point mutation, like CFTR, in cells or animals via CRISPR/Cas9 technology.
Our professional scientists have successfully implemented CFTR CRISPR/Cas9 gene edited in both easy-to-transfect cell lines and hard-to-transfect cells. To support your projects, we will offer you full-length custom CFTR gene editing service form strategy design to final stable cells. Our CFTR gene editing cell line generation services include:
➢ gRNA design and synthesis
➢ Transfect the cell lines you’re interested
➢ Select the high expression cells and sort monoclonal cell
➢ Validate the knockout/knockin/point mutation of CFTR by PCR and sequencing
➢ Produce cryogenic preserved vials of stable cells and a final report
Typically, we develop CRISPR-mediated gene editing cell lines including HEK239T, Hela, HepG2, U87, but we can use other cell lines according to your requirements.
Other host cell lines available: Ba/F3, CHO, MDA-MB-453, MDA-MB-231NIH3T3, T47D, Neuro2a, MCF7, RKO, K562, RAW264.7, etc.
CRISPR/Cas9 PlatformCB also has extensive experience in incorporating CRISPR-Cas9 technology into animal models, which have been fully recognized by our clients. Tell us your projects’ needs, we provide a one-stop-shop CFTR CRISPR/Cas9 gene editing animal service and guarantee at least 2 founders or 3 F1 animals with shorter turnaround time and lower price. Our CFTR gene editing animal model generation services include:
➢ CFTR gene conventional knockout animals
➢ CFTR gene conditional knockout animals
➢ CFTR point mutation animals
➢ CFTR knockin animals
Alternative species: mouse, rat, rabbit, zebrafish, C. elegans, etc.
CRISPR/Cas9 PlatformCB is devoted to providing the best gene editing services to accelerate the achievement of your research goals. We are committed to providing the most reliable and effective research services and products with excellent quality management and quality assurance capacity. If you have any questions, please feel free to contact us.
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Legal Statement of CRISPR/Cas9 PlatformCB, Services and Products：
The products and the reagents generated from these services shall be only used as tools for research purposes, and shall exclude (a) any human or clinical use, including, without limitation, any administration into humans or any diagnostic or prognostic use, (b) any human germline modification, including modifying the DNA of human embryos or human reproductive cells, (c) any in vivo veterinary or livestock use, or (d) the manufacture, distribution, importation, exportation, transportation, sale, offer for sale, marketing, promotion or other exploitation or use of, or as, a testing service, therapeutic or diagnostic for humans or animals.