Gene: CFTR

Alternate names for this Gene: ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1

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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.2

Description of this Gene: CF transmembrane conductance regulator

Type of Gene: protein-coding

Gene: CFTR-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs113993960 in CFTR;CFTR-AS1 gene and Cystic Fibrosis PMID 10782933 2000 Identification of cystic fibrosis mutations in Oman.

PMID 11280952 2001 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

PMID 1381146 1992 CFTR!

PMID 2570460 1989 Identification of the cystic fibrosis gene: genetic analysis.

PMID 15246977 2004 Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.

PMID 24559724 2014 Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.

PMID 9135274 1997 delta F508 in cystic fibrosis: willing but not able.

PMID 15141088 2004 Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.

PMID 2475911 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

PMID 23974870 2013 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

PMID 15371902 2005 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

PMID 17206681 2007 Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease.

PMID 7544320 1995 Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

PMID 18467194 2008 The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.

PMID 20949073 2010 Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

PMID 17761616 2007 Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 1284529 1992 Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

PMID 12167682 2002 Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

PMID 16822950 2007 Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.

PMID 1695717 1990 A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

PMID 12394352 2003 Standards and guidelines for CFTR mutation testing.

PMID 15528182 2005 Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

PMID 12529365 2003 A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.

PMID 15789152 2005 Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 1710600 1991 Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

PMID 19914443 2009 Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

PMID 9554753 1998 Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

PMID 26864378 2016 Correctors Rescue CFTR Mutations in Nucleotide-Binding Domain 1 (NBD1) by Modulating Proteostasis.

PMID 8406518 1993 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

PMID 25431289 2014 Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

PMID 9452054 1998 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

PMID 25981758 2015 Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

PMID 8956039 1996 Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.

PMID 8723693 1996 A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.

PMID 7683628 1993 Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

PMID 7543567 1995 A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

PMID 7524909 1994 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

PMID 8522333 1995 Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

PMID 9452073 1998 A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.

PMID 8829633 1996 Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

PMID 24014130 2014 Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 20150177 2010 Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.

PMID 21422883 2011 ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.

PMID 19914445 2009 Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.

PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PMID 23891399 2014 Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

PMID 20605539 2010 Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.

PMID 20008117 2010 Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

PMID 20675678 2010 Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.

PMID 20510657 2010 Report of two patients with associated conditions in addition to cystic fibrosis.

PMID 9788722 1998 Molecular basis of cystic fibrosis in the Republic of Macedonia.

PMID 26708955 2016 The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

PMID 9003508 1997 Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.

PMID 15088804 2004 Rare CFTR mutation 1525-1G>A in a Pakistani patient.

PMID 7682196 1993 Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

PMID 26208274 2015 Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

PMID 12007216 2002 Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

PMID 9482579 1998 Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

PMID 16436643 2006 A haplotype framework for cystic fibrosis mutations in Iran.

PMID 18782298 2009 Identification and characterization of CFTR gene mutations in Indian CF patients.

PMID 16137181 2005 Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

PMID 12843337 2003 Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

PMID 23933162 2014 Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.

PMID 7573058 1995 CFTR gene variant for patients with congenital absence of vas deferens.

PMID 11379874 2001 Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

PMID 12833420 2003 Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.

PMID 15246977 2004 The inflammatory responses to P. aeruginosa-laden agarose beads were comparable in mice of all four Cftr mutant genotypes with respect to absolute and relative cell counts in bronchoalveolar lavage fluid, and cytokine levels (TNF-alpha, IL-1beta, IL-6, macrophage inflammatory protein-2, and keratinocyte chemoattractant) and eicosanoid levels (PGE2 and LTB4) in epithelial lining fluid: the few small differences observed occurred only between cystic fibrosis mice bearing the S489X mutation and those bearing the knockout mutation Y122X.

PMID 15176679 2004 Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.

PMID 12752573 2003 Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

PMID 9259197 1997 Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.