Is CFTR a ABC transporter?

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 transporter is affected in cystic fibrosis?

Cystic fibrosis occurs when the cystic fibrosis transmembrane conductance regulator (CFTR) protein is either not made correctly, or not made at all. By understanding how the protein is made, scientists have been able to develop treatments that target the protein and restore its function.

Is CFTR an active transporter?

Among human ABC proteins, CFTR is thought to be unique in that it has no active transport function, but instead acts as a phosphorylation-regulated, ATP-gated anion channel [5. The ABC protein turned chloride channel whose failure causes cystic fibrosis.

What is the most common mutation in CFTR?

The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.

What kind of transport is CFTR?

ATP binding cassette transporters
CFTR belongs to a large super-family of ATP binding cassette transporters that have two nucleotide binding domains with characteristic sequences or “motifs.” Although most other ATP binding cassette transporters consume ATP to actively transport various substrates, in CFTR the interactions of ATP with nucleotide …

What kind of transport does the CFTR protein do?

This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells.

How does CFTR mutation cause cystic fibrosis?

In people with CF, mutations in the CFTR gene cause the CFTR protein to malfunction, leading to a buildup of thick mucus. that contains a mutation and one normal copy are considered CF carriers. CF carriers do not have the disease but can pass their copy of the defective gene. Each chromosome carries hundreds of genes.

Which type of mutation causes this translation error that leads to cystic fibrosis?

Genetics. Cystic fibrosis is caused by various mutations? in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene? on chromosome? 7. The most common genetic abnormality causing cystic fibrosis involves the deletion of just three DNA bases (a codon?) from the CFTR gene.

What does the CFTR protein transport?

How are the different CFTR mutations classified?

BIOLOGY OF CFTR MUTATION: TRADITIONAL CLASSIFICATION 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.

Which type of mutation occur in cystic fibrosis?

Abstract. Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. The most common CF-associated mutation is ΔF508, which deletes a phenylalanine in position 508.