Methods for the diagnosis and treatment of pathological conditions resulting from incomplete ion transport of type 1 pseudohypoaldosteronism etc.

摘要

The present invention is based, in part, on the identification of the roles of the human ATP-sensitive K+ channel, ENaC in causing pathological condition associated with abnormal ion transport, particularly PHA1. The present invention specifically provides the amino acid sequence of several human altered variants of the ENaC protein as well as the nucleotide sequence that encodes these variants that can be used in diagnosing ion transport disorders.