What is the nature of the defect in Aquaporin 2, and how can the symptoms of both autosomal recessive NDI and autosomal dominant NDI be explained by the defect in Aquaporin 2?
| Topic: | NDI: An Overview |
|---|
Most generally, the nature of the defect in the AQP2 gene (whether inherited in the recessive or dominant mode) results in AQP2's that are not allowed out of the endoplasmic reticulum (ER) because they are improperly folded. Since the defective AQP2's cannot leave the ER, they cannot travel to the apical membrane. Since they cannot get to the apical membrane, they cannot insert themselves into it in order to increase the apical membrane's water permeability. Please refer to the information on our site dealing with AQP2 for further details.