Aquaporin is related to some diseases.
- Mutations in the aquaporin-2 gene cause hereditary nephrogenic diabetes
insipidus in humans.
- Mice homozygous for inactivating mutations in the aquaporin-0 gene develop
congenital cataracts. I don't know whether similar situation exists in human.
- Some people have been identified with severe or total deficiency in
aquaporin-1. Interestingly, they appear clinically unaffected, but have not
been examined under conditions of water deprivation. Mice with t
