What does Delta F508 mean?

What does Delta F508 mean?

Background and aims: Deletion of the codon for phenylalanine at position 508 (DeltaF508) is the most frequent disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Are there different levels of cystic fibrosis?

Are there different types of cystic fibrosis? There are over 2,000 identified mutations of the cystic fibrosis gene. Cystic fibrosis is a very complex condition that affects people in different ways. Some suffer more with their digestive system than the lungs.

How many classes of cystic fibrosis mutations are there?

There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.

How big is the CFTR gene?

The CFTR gene itself spans only 189.36 kb; however, the immediate promoter can be extended as far as 20.9 kb upstream, where the CTCF-dependent insulator element is located—the expanded promoter region includes the regulatory binding element required for proper gene expression (Blackledge et al. 2007).

What does the CFTR protein do?

The CFTR protein The cystic fibrosis transmembrane conductance regulator (CFTR) protein is responsible for regulating the proper flow of chloride and sodium (a component of salt) in and out of the cell membranes in the lungs and other organs. is made up of 1,480 amino acids.

Is there such thing as mild cystic fibrosis?

Atypical CF is a milder form of the CF disorder, which is associated with mutations of the cystic fibrosis transmembrane receptor gene. Instead of having classic symptoms, individuals with atypical CF might only have mild dysfunction in 1 organ system and might or might not have elevated sweat chloride levels.

What is borderline CF?

A chloride level greater than 60 confirms a diagnosis. A borderline sweat test result—when the chloride level is between 30 and 60—means your child may have a metabolic syndrome related to an abnormal cystic fibrosis transmembrane conductance (CFTR) gene.

What are the 6 classes of cystic fibrosis?

Traditional classification of CF mutations based on their cellular phenotype. Class I: protein synthesis defect; class II: maturation defect; class III: gating defect; class IV: conductance defect; class V: reduced quantity; and class VI: reduced stability.

What is the function of CFTR?

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.

How many base pairs is CFTR?

The CFTR gene contains over 180,000 base-pairs and the protein has 1480 amino acids.