1. Cystic Fibrosis Hereditary recessive trait disease
Affects the respiratory, digestive and reproductive systems
Most common in Caucasian population 1 in 2,500 births
1 in 31 Caucasians in America are carriers
Average life span 30 years
No cure
Bupa.com

2. CFTR Protein Cystic fibrosis transmembrane conductance regulator
Affects the CFTR gene: locus 7q31.2 in the q31.2 long arm of chromosome 7
CFTR protein 1480 amino acids long
Traffic ATPase or ABC transporter
Transports sugars, peptides, inorganic phosphate, chloride and metal cations across membrane
Chloride channel protein found in cell lining of lungs, liver, pancreas, intestines, reproductive tract and skin

3. What it does
Defect in the CFTR gene that codes sodium and chloride transporter located in the lining of lungs and other organs
500 different mutations most common found on delta F508 causing loss of chloride ion

4. Pathways Normal CFTR protein is synthesized
Transported to the endoplasmic reticulum and Golgi apparatus in order for integration to take place
Sodium and chloride ion are transported which creates a thin mucus layer in the lungs and other organs
The mucus and cilia lining captures bacteria that cause infections

5. Stuff you don’t understand!

6. I don’t know if this is my part so I just copied and pasted this I can rewrite it if it is needed
The thick mucus also obstructs the ducts of the pancreas, preventing digestive enzymes from reaching the intestines. So those with CF do not absorb nutrients from their food well, and they eliminate non-digested food through the bowel, resulting in very large stools. Because so little food is absorbed, those with CF have difficulty gaining and maintaining weight, despite a healthy appetite and diet.
CF also affects the reproductive systems of both males and females. Although females with CF have normal fallopian tubes and ovaries, their thick cervical secretions may block sperm entry and prevent them from getting pregnant. Males with CF are almost always sterile because they produce relatively few or no sperm. Also, abnormally thick secretions may block the ducts that carry sperm, or the ducts may not develop properly.