http://www.ncbi.nlm.nih.gov/disease/Transporters.html
Transporters, pumps and channels Cystic_fibrosis Deafness Diastrophic dysplasia Hemophilia_a Long-QT syndrome Menkes syndrome Pendred syndrome Polycystic_kidney_disease Sickle_cell anemia Wilson's disease Zellweger_syndrome TRANSPORTERS, CHANNELS AND PUMPS that reside in cell_membranes are key to maintaining the right balance of ions in cells, and are vital for transmitting signals from nerves to tissues. The consequences of defects in ion channels and transporters are diverse, depending_on where they are_located and what their cargo is. In the heart, defects in potassium channels do not allow proper transmission of electrical impulses resulting in the arrythmia seen in LONG_QT_SYNDROME. In the lungs, failure of a sodium and chloride transporter found in epithelial_cells leads to the congestion of cystic_fibrosis, while one of the most common inherited forms of deafness, Pendred syndrome, looks to be_associated with a defect in a sulphate transporter