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:
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
rs397508225 in
CFTR-AS1;CFTR gene and
Congenital bilateral aplasia of vas deferens
PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
PMID 10651488 1998 A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
PMID 7539342 1995 Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
PMID 7684646 1993 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.
PMID 11069835 2000 Lung disease associated with the IVS8 5T allele of the CFTR gene.
PMID 14685937 2004 Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
PMID 1381723 1992 Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
PMID 17314234 2007 Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
PMID 16263954 2005 Late CF caused by homozygous IVS8-5T CFTR polymorphism.
PMID 16020494 2005 Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.
PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
PMID 9435322 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
rs121908775 in
CFTR-AS1;CFTR gene and
Cystic Fibrosis
PMID 1284477 1992 Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
PMID 15365999 2004 Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
PMID 16980811 2006 Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
PMID 24696795 2014 Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.
PMID 7509683 1994 Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
PMID 23974870 2013 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
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 16822950 2007 Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
PMID 1284529 1992 Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
PMID 11280952 2001 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
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 7524909 1994 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
PMID 25431289 2014 Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
PMID 17761616 2007 Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
PMID 8723693 1996 A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
PMID 25981758 2015 Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
PMID 7543567 1995 A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
PMID 8406518 1993 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
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 8522333 1995 Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
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 24014130 2014 Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
PMID 9554753 1998 Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
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 8829633 1996 Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
PMID 20675678 2010 Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
PMID 20150177 2010 Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
PMID 9452054 1998 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
PMID 20008117 2010 Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
PMID 12167682 2002 Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
PMID 9452073 1998 A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
PMID 19914445 2009 Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
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 20605539 2010 Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
PMID 21422883 2011 ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
PMID 17035430 2006 Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.
PMID 22395041 2012 Patient 2, an Indian female diagnosed with CF on newborn screening, is compound heterozygous for V456A/R709X.
PMID 22423042 2012 Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease.
PMID 12357328 2002 Demographics of the UK cystic fibrosis population: implications for neonatal screening.
PMID 27131402 2016 Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
PMID 10425081 1999 A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
PMID 25910067 2015 A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
PMID 15858154 2005 Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
PMID 18769034 2008 Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.
PMID 26574590 2015 Newborn Screening for Cystic Fibrosis in California.
PMID 19447078 2009 Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening.
PMID 9150159 1997 Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
PMID 10834512 2000 Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
PMID 17331079 2007 Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
PMID 9429141 1997 Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
PMID 1381723 1992 Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.
PMID 7684646 1993 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
PMID 9435322 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
PMID 17314234 2007 Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
PMID 14685937 2004 Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
PMID 11069835 2000 Lung disease associated with the IVS8 5T allele of the CFTR gene.
PMID 16020494 2005 Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.
PMID 16263954 2005 Late CF caused by homozygous IVS8-5T CFTR polymorphism.
PMID 23466340 2013 CFTR2: How will it help care?
PMID 7542778 1995 Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.
PMID 2236053 1990 Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
PMID 12767731 2003 Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
PMID 15371902 2005 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
PMID 1284466 1992 Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
PMID 1376016 1992 This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
PMID 11823443 2002 As expected, the G480C cystic fibrosis mouse model expresses the G480C mutant transcript at a level comparable to that of wild-type CFTR: The homozygous mutant mice were fertile, had normal survival, weight, tooth colour and no evidence of caecal blockage, despite mild goblet cell hypertrophy in the intestine.
PMID 11388756 2001 Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
PMID 7757078 1995 G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals.
PMID 9683582 1998 Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.
PMID 24434749 2014 Aquagenic wrinkling of the palms and cystic fibrosis: an Italian study with controls and genotype-phenotype correlations.
PMID 16784904 2007 Highly preferential association of NonF508del CF mutations with the M470 allele.
PMID 21811577 2011 Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis.
PMID 12752573 2003 Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.