Article
Vasopressin receptor mutations and nephrogenic diabetes insipidus.
Archives of medical research - 1 Jan 2000
Birnbaumer M
Abstract excerpt
X-linked recessive nephrogenic diabetes insipidus is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R), the mediator of the antidiuretic effect of arginine vasopressin (AVP) in mammalian kidneys. Upon binding to AVP, the receptor activates the G protein Gs, stimulating a phosphorylation cascade that promotes translocation of presynthesized water channels to the apical surface of the...
Topics
- Amino Acid Sequence
- Animals
- Arginine Vasopressin
- Diabetes Insipidus, Nephrogenic
- Humans
- Incidence
- Molecular Sequence Data
- Mutation
- Receptors, Vasopressin
