Page "Cystic fibrosis" Paragraph 23

The CFTR gene, found at the q31. 2 locus of chromosome 7, is 230, 000 base pairs long, and creates a protein that is 1, 480 amino acids long.

More specifically the location is between base pair 117, 120, 016 to 117, 308, 718 on the long arm of chromosome 7, region 3, band 1, sub-band 2, represented as 7q31. 2.

Structurally, CFTR is a type of gene known as an ABC gene.

The product of this gene ( the CFTR ) is a chloride ion channel important in creating sweat, digestive juices and mucus.

This protein possesses two ATP-hydrolyzing domains, which allows the protein to use energy in the form of ATP.

It also contains two domains comprising 6 alpha helices apiece, which allow the protein to cross the cell membrane.

A regulatory binding site on the protein allows activation by phosphorylation, mainly by cAMP-dependent protein kinase.

The carboxyl terminal of the protein is anchored to the cytoskeleton by a PDZ domain interaction.