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.