Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC

@article{Edelheit2010TruncatedBE,
  title={Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC},
  author={Oded Edelheit and Israel Hanukoglu and Yafit Shriki and M. Tfilin and A. Hanukoglu},
  journal={The Journal of Steroid Biochemistry and Molecular Biology},
  year={2010},
  volume={119},
  pages={84-88}
}
Aldosterone regulated epithelial sodium channels (ENaC) are constructed of three homologous subunits. Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension. In this study we identified two frameshift mutations in the SCNN1B alleles of a female infant… Expand
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