Human Cystic fibrosis transmembrane conductance regulator(CFTR) ELISA kit

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.

1. The majority of CFTR variants detected have been associated with a less severe cystic fibrosis phenotype. A wide spectrum of CFTR variants was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean country. Additionally, better knowledge about the CFTR sequence variation spectrum may contribute to more efficient genetic testing in the Portuguese population PMID: 29589582
2. Defective CFTR and NOX/GR activity imbalance both contribute to NADPH and GSH level decrease and ROS overproduction in CF cells. PMID: 29524019
3. FAU knockdown increased the plasma membrane targeting and function of F508del-CFTR, but not of wild-type CFTR. Investigation into the mechanism of action revealed a preferential physical interaction of FAU with mutant CFTR, leading to its degradation. PMID: 29158263
4. KIFC1 interacts with F508del-CFTR. PMID: 30066085
5. Results suggest that dynamic cystic fibrosis transmembrane conductance regulator (CFTR) conformational changes of the outermost part of the Cl- permeation pathway take place as the channel opens and closes PMID: 29441426
6. In this report we target premature termination codons (PTCs) in messages encoding both a fluorescent reporter protein and the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein transiently transfected into human epithelial cells. We demonstrate that while on-target editing is efficient, off-target editing is extensive, both within the targeted message and across the entire transcriptome of the transfected PMID: 29099293
7. Studies indicate that the most common mutation in cystic fibrosis (CF), the deletion of a phenylalanine at position 508, involves dramatic alterations of the cystic fibrosis transmembrane conductance regulator (CFTR) traffic, processing and folding. PMID: 27704173
8. CFTR silencing results in lipid homeostasis disruption and mitochondrial dysfunction in intestinal epithelial cells. PMID: 29954133
9. Roles of CFTR in fundamental cellular processes including transformation, survival, proliferation, migration, invasion and epithelial-mesenchymal transition in cancer cells, highlighting the signaling pathways involved. Finally, the association of CFTR expression levels with patient prognosis, and the potential of CFTR as a cancer prognosis indicator in human malignancies will be discussed. [review] PMID: 29411041
10. CFTR exhibited an inhibitory role in the malignancy of lung adenocarcinoma A549 cells PMID: 29526175
11. in Caco-2 CFTR-shRNA cells, the EGFR ligand EREG is overexpressed due to an active IL-1beta autocrine loop that indirectly activates EGFR, constituting new signaling effectors for the CFTR signaling pathway, downstream of CFTR, Cl(-) , and IL-1beta. PMID: 29091309
12. The reduced CFTR expression and the mitochondrial damage induced by Cigarette Smoke Extract (CSE) could not be normalized by N-acetylcysteine (NAC) treatment, evidencing the need for a more specific reagent. In conclusion, CSE causes a sterile proinflammatory state and mitochondrial damage in Calu-3 cells that was partially recovered by NAC treatment. PMID: 29573703
13. we identified mutations in 98.54% of all disease chromosomes, while 86.54% were identified using ELUCIGENE kits, 0.54% by MLPA analysis and 11.46% by sequencing analysis. Knowledge of the mutation spectrum in genetically diagnosed patients improves possibilities of genetic counseling and cascade screening in the affected families and Slovak population. PMID: 28544683
14. Study found a significant association of CFTR gene c.1210-34TG [12]/c.1210-34TG [13] - c.1210-12[5] -V470 allele with congenital bilateral absence of the vas deferens in Indian men. PMID: 28776713
15. CFTR expression level is relevant to fecundity of healthy couples and shows potential predictive capacity of fecundity. PMID: 28762521
16. To expand the computational strategy designed when studying XIAP, we have applied the molecular modeling tools to a list of 140 variants seen in CFTR associated with cystic fibrosis, and a list of undiagnosed variants in 17 different genes. Graphical abstract XIAP in Caspase 3 and NOD2 signaling pathways. PMID: 28204942
17. CFTR variants with NBD1-stabilizing mutations were expressed at the cell surface in mammalian cells, exhibited ATPase and channel activity, and retained these functions to higher temperatures. The capability to produce enzymatically active CFTR with improved structural stability amenable to biophysical and structural studies will advance mechanistic investigations and future cystic fibrosis drug development. PMID: 29425673
18. Range of impacts that single mutations can evoke in intramolecular protein-protein and/or protein-lipid interactions - and the levels to which corresponding mutations in full-length CFTR may be flagged by quality control mechanisms during biosynthesis. PMID: 29307731
19. Results show that CFTR channels are present in alpha cells and act as important negative regulators of cAMP-enhanced glucagon secretion through effects on alpha cell membrane potential. These data support that loss-of-function mutations in CFTR contributes to dysregulated glucagon secretion in Cystic Fibrosis-related diabetes. PMID: 28273890
20. A high prevalence of the CFTR V232D mutation in patients with cystic fibrosis and the mutation was found to be associated with the phenotype of pulmonary disease. PMID: 29995784
21. Archived data from 15 adult cystic fibrosis patients with the CFTR c.1652GA (G551D) mutation. PMID: 29293275
22. The pancreatic insufficiency (PI) status was associated with clinical variables and single nucleotide polymorphisms (SNPs) related with inflammatory response considering cystic fibrosis transmembrane conductance regulator (CFTR) mutations. PMID: 29215541
23. The data suggest that miR-200b may be a suitable target for modulating CFTR levels in vivo. PMID: 29167681
24. The mutations found in the promoter region of the CFTR gene in Chinese congenital bilateral absence of the vas deferens patients were different from those in Caucasian populations. PMID: 29864494
25. Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. PMID: 27996019
26. This study discovers an essential role of CFTR in mediating the retinoic acid-dependent signaling for stem cell differentiation and embryonic development. PMID: 29326073
27. CFTR stabilizes beta-catenin and prevents its degradation, defect of which results in the activation of NF-kappaB-mediated inflammatory cascade PMID: 27588407
28. There is significant variability in both the frequency and type of mutations present in our study population and in what has been reported in other Latin American countries. It is necessary to perform studies that use complete sequencing technology for the CFTR gene to identify other mutations present in our population PMID: 28538847
29. Marked asynchrony of motion in the two ATP sites reveals their distinct roles in channel gating. PMID: 28944753
30. F508 deletion in CFTR was significantly positively associated with chronic pancreatitis (CP) risk in the overall analysis. Indians with F508 deletion had much higher CP prevalence than non-Indians. Interestingly, F508 deletion was also associated with CP and idiopathic CP risk in subgroup analysis stratified by aeitiology, using the fixed effects model. [review, meta-analysis] PMID: 28780053
31. This comprehensive CFTR database is now an invaluable tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counseling, prenatal and preimplantation genetic diagnosis PMID: 28603918
32. this study suggests that CFTR may play a role in the physiology of the innervation of the gastro-intestinal tract PMID: 27491544
33. This article reviews the roles of CFTR in epithelial cells, its regulatory role in insulin secretion, and a mechanism of CFTR regulation by insulin. [review] PMID: 28805732
34. F508del-homozygosity was far less common among British Asian Cystic Fibrosis patients. Only 45% had at least one CFTR mutation included in the UK CF NBS panel (F508del, G551D, 621+1G->T, G542X) against 94% of non-Asians. Thirty percent of Asians had not even one CFTR mutation included in the CFTR panel widely used in UK-for clinical diagnosis, compared to only 1% of non-Asians. PMID: 28233695
35. dexa induces a rapid stimulation of CFTR activity which depends on PI3K/AKT signaling in airway epithelial cells. Glucocorticoids might thus represent, in addition to their immunomodulatory actions, a therapeutic strategy to rapidly increase airway fluid secretion. PMID: 28825630
36. Based on multiple linear regression analysis the dose of vitamin K and F508del mutation were potentially defined as determinants of vitamin K deficiency. In cystic fibrosis patients with liver cirrhosis, vitamin K deficiency is not only more frequent, but also more severe. However, not liver cirrhosis, but the presence of a F508del CFTR mutation constitutes an independent risk factor for vitamin K deficiency. PMID: 28185838
37. CFTR insertion in the plasma membrane results in local reorganization of actin, PDZ binding proteins and certain GPCRs. PMID: 27278076
38. The co-transfection of the pLuc-CFTR-3 UTR vector with different combinations of PNAs, miR-509-3p, and controls in A549 cells demonstrated the ability of the longer PNA to rescue the luciferase activity by up to 70% of the control, thus supporting the use of suitable PNAs to counteract the reduction in the CFTR expression PMID: 28698463
39. beta2-Agonist-induced organoid swelling correlated with the CFTR genotype, and could be induced in homozygous CFTR-F508del organoids and highly differentiated primary cystic fibrosis airway epithelial cells after rescue of CFTR trafficking by small molecules PMID: 27471203
40. This paper presents an 11-year-old Chinese CF patient with disseminated bronchiectasis and salty sweat. A homozygous deletion involving exon 20 of CFTR was observed in the patient's genome. This study expands the mutation spectrum of CFTR in patients of Chinese origin. PMID: 28620757
41. s demonstrated CFTR and PP2AA interact in the cytosol, resulting in PP2A complex inactivation and increased degradation of PP2A substrates via the lysosomal/proteasome pathway. PMID: 28445932
42. analysis of CFTR folding mutants and their correction in rectal cystic fibrosis organoids PMID: 27103391
43. Rare CFTR P67L mutation is associated with a mild form of Cystic Fibrosis compared to the common severe DeltaF508 mutation. PMID: 28392015
44. The aim of this study was to sequence the coding region of the CFTR in Brazilian cystic fibrosis patients and determine the frequency of mutations in this cohort. PMID: 28771972
45. With the ongoing development of small molecules to modulate the folding and/or activity of various mutated CFTR proteins, this halide assay presents a small-scale personalized screening platform that could assess therapeutic potential of molecules across a broad range of CFTR mutations PMID: 29360847
46. Hsc70/Hsp90 chaperones contribute to the conformational and functional maintenance of DeltaF508-CFTR at 37 degrees C. PMID: 28855508
47. Results showed that CFTR was down-regulated in nasopharyngeal carcinoma (NPC) tissues and cell lines, and that that low expression levels of CFTR are associated with cancer progression and poor survival of NPC patients. Also, the study demonstrates that CFTR manipulation in NPC cell lines affects cell migration and invasion, providing mechanistic basis for the role of CFTR in NPC development. PMID: 27769067
48. study's results help fill in knowledge gaps about particular CFTR variants. More than 2,000 different CF mutations have been reported, but according to a widely used database called Clinical and Functional Translation of CFTR (CFTR2), only 10% are categorized as disease-causing PMID: 27518913
49. The p.H609R was found cystic fibrosis-causing mutations in homozygous state in four patients with cystic fibrosis symptoms. PMID: 29178639
50. Sweat chloride and respiratory symptom scores improved with lumacaftor/ivacaftor, though no meaningful benefit was seen in ppFEV1 or body mass index in patients heterozygous for F508del-CFTR. PMID: 27898234

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

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.

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

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

HGNC: 1884

OMIM: 219700

KEGG: hsa:1080

STRING: 9606.ENSP00000003084

UniGene: Hs.489786