What is CFTR chloride channel?
Cystic fibrosis transmembrane conductance regulator (CFTR) is a phosphorylation-dependent epithelial Cl− channel. It is located primarily in the apical membrane, where it provides a pathway for Cl− movement across epithelia and regulates the rate of Cl− flow.
How many variants of CFTR are there?
Scientists have found more than 1,700 different mutations in the CFTR gene that can cause CF.
What type of channel is CFTR?
Cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-gated anion channel with two remarkable distinctions. First, it is the only ATP-binding cassette (ABC) transporter that is known to be an ion channel–almost all others function as transport ATPases.
What is congenital absence of the vas deferens?
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen.
What is CFTR 5T?
The 5T variant is a common mild variant occurring in one in ten individuals in the general population. 3 It causes abnormal splicing of the CFTR gene transcript, resulting in a 90% reduction of functional CFTR protein.
How do chloride channels work?
Function. The CLC channels allow chloride to flow down its electrochemical gradient, when open. These channels are expressed on the cell membrane. CLC channels contribute to the excitability of these membranes as well as transport ions across the membrane.
Which chromosome is CFTR on?
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated …
How do CFTR channels work?
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.
Where is the 5T variant located in the CFTR gene?
The 5T variant, located in intron 9 of the CFTR gene, is an alteration within the poly-thymidine tract, which decreases the efficiency of exon 10 splicing. The 5T variant in trans with a pathogenic CFTR mutation, or in the homozygous state, has been associated with CFTR-related disorders, including bronchiectasis (Sosnay PR et al. Pediatr.
Is the CFTR gene located in intron 8?
NM_000492.3 (CFTR):c.1210-7_1210-6delTT (aka IVS8-5T or 5T) is a variant within the polyT tract located within intron 8 of the CFTR gene. 5T has been observed in individuals diagnosed with cystic fibrosis but has also been observed in healthy individuals (PMID 23974870; gnomAD: AFR 7.085%).
Where does CFTR c.1210-12 [ 5 ] occur?
Variant summary: CFTR c.1210-12  (also known as c.5T_TG11 or c.1210-7_1210-6delTT) occurs in the poly T tract in intron 9. 5/5 computational tools predict no significant impact on normal splicing. However, at least one functional study shows a moderate impact to proper CFTR mRNA expression in vitro (Hefferon_2004).
Which is larger TG 12 or 13 for cystic fibrosis?
The length of the TG tract modifies the overall risk with lon ger TG repeat sizes (TG 12 and 13) showing the greatest susceptibility to diseas e when present in trans with a pathogenic cystic fibrosis variant (Chu 1992, Cup pens 1998, Groman 2004, Radpour 2007).