This gene has the challenging job of giving the instructions for making a protein called the cystic fibrosis transmembrane conductance regulator protein. This protein produces the mucus, sweat, tears, saliva and digestive enzymes in our bodies. It also acts like a tunnel to bring the negatively charged ion particle- chloride into and out of the cell. The movement of the chloride helps maintain the making of thin and easy moving mucus. In most Cystic Fibrosis cases there are mutations where amino acids are changed or deleted. For example, the most found mutation goes by the name of delta F508. In this mutation one amino acid gets deleted, on the 508th place on the CFTR protein, after this it breaks down and is never able to get to the membrane to bring the chloride ions. This is one of many mutations that may cause cystic
This gene has the challenging job of giving the instructions for making a protein called the cystic fibrosis transmembrane conductance regulator protein. This protein produces the mucus, sweat, tears, saliva and digestive enzymes in our bodies. It also acts like a tunnel to bring the negatively charged ion particle- chloride into and out of the cell. The movement of the chloride helps maintain the making of thin and easy moving mucus. In most Cystic Fibrosis cases there are mutations where amino acids are changed or deleted. For example, the most found mutation goes by the name of delta F508. In this mutation one amino acid gets deleted, on the 508th place on the CFTR protein, after this it breaks down and is never able to get to the membrane to bring the chloride ions. This is one of many mutations that may cause cystic