Article
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Experimental nephrology - 1 Jan 2000
Kamsteeg E J, Deen P M, van Os C H
Abstract excerpt
Nephrogenic diabetes insipidus (NDI) is a disease characterized by the inability of the kidney to concentrate urine upon stimulation with vasopressin. Mutations in the gene for aquaporin-2 (AQP2) are the cause of the autosomal recessive and autosomal dominant forms of NDI. Mutant AQP2 proteins, found in autosomal recessive NDI, were shown to be misfolded and retarded in the endoplasmic reticulum. One mutant...
Topics
- Amino Acid Sequence
- Animals
- Aquaporin 2
- Aquaporin 6
- Aquaporins
- Diabetes Insipidus, Nephrogenic
- Genes, Dominant
- Genes, Recessive
- Humans
- Molecular Sequence Data
- Molecular Structure