Article
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
The EMBO journal - 3 Mar 1997
Gründer S, Firsov D, Chang S S, Jaeger N F, Gautschi I, Schild L, Lifton R P, Rossier B C
Abstract excerpt
Pseudohypoaldosteronism type 1 (PHA-1) is an inherited disease characterized by severe neonatal salt-wasting and caused by mutations in subunits of the amiloride-sensitive epithelial sodium channel (ENaC). A missense mutation (G37S) of the human ENaC beta subunit that causes loss of ENaC function...
Topics
- Amiloride
- Amino Acid Sequence
- Animals
- Conserved Sequence
- Epithelial Sodium Channels
- Glycine
- Humans
- Ion Channel Gating
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Oocytes
- Patch-Clamp Techniques
- Phosphorylation