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The CFTR protein is composed of 1,480 amino acids—the building blocks of all proteins—and is inserted into the cell surface or membrane. The protein is made up of a single chain of amino acids that are grouped in five functional regions called domains. Two transmembrane domains (TMD1 and TMD2), two cytoplasmic nucleotide-binding domains (NBD1 and NBD2) and a regulatory (R) domain make up the regions. Since each domain has a special function when it comes to transporting chloride through the cell membrane, mutations in different domains will cause a range of mild to severe CF symptoms. Mutations in CFTR often affect the three-dimensional structure of the protein and prevent CFTR from reaching the membrane.
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