cftr gene size
CFTR (Myc-DDK-tagged)-Human cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR) 10 ug 10 ug. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. In the lung, the CFTR ion channel moves chloride ions. The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. The channel transports negatively charged particles called chloride ions into and out of cells. To understand the structure and to provide the basis fo … After transcription, a 6.1-kb transcript is generally obtained. Since then, more than 900 mutations of this single gene have been identified. Title: CFTR CF transmembrane conductance regulator [ Falco peregrinus (peregrine falcon) ] Gene type: protein coding Gene size: 92290bp Assembly: F_peregrinus_v1.0 (GCF_000337955.1) Chromosome: Unplaced Scaffold Location: NW_004930348.1(486811..579100). However, the level of CFTR gene expression has been low because the vector cannot accommodate the CFTR gene together with a promoter. RC216476L2. The gene was discovered in 1989. Adeno-associated virus (AAV)-based vectors have been shown to be effective in transferring the cystic fibrosis gene (CFTR) into airway epithelial cells in animal models and in patients. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. Source: NCBI Gene ( ID 101921929). CFTR: from gene to proteinThe CFTR gene is located on the long arm of chromosome 7 (7q31), spans 250 kb of genomic DNA and contains 27 exons . Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator (CFTR) gene - causes CF. Organism: Falco peregrinus Ortholog(s): human; mouse CFTR. The CFTR protein is a particular type of protein called an ion channel. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions. Lenti-ORF clone of CFTR (mGFP-tagged)-Human cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR) 10 ug 10 ug. There are around 2000 identified mutations in the gene, 127 of which are currently known to cause CF. CFTR. Different tissue and time-specific transcription start sites are found. An ion channel moves atoms or molecules that have an electrical charge from inside the cell to outside, or from outside the cell to inside. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). USD 1,597.00. Cystic fibrosis is a rare, life-shortening genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator – or CFTR – gene. An atom or molecule that carries a positive or negative electric charge. The gene is a bit over 200 thousand base pairs (200 kbp) in size, much bigger than the average size of human genes. The gene has recently been identified and shown to be approximately 250 kb in size. The CFTR gene is "very big" and "complicated", as shown in detail in the figure (bottom of page). V: decreased functional CFTR synthesis or transport, so incorrect splicing of a gene e.g.,A455E <3% European CF patients affected [Peebles et al 2005] Classic CF: classes 1-3 (loss of all function) Non Classic CF: classes 4-5 (reduced function) The gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is located on the long arm of human chromosome 7, region q31-q32. 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