Key result
A review of the delta subunit of the epithelial sodium channel (δ ENaC) highlights its divergent biophysical properties and links SCNN1D deficiency to rare genetic diseases.
This review highlights the divergent properties and physiological roles of the δ ENaC subunit, including its association with rare genetic diseases affecting the brain, heart, and respiratory systems.
May prompt SCNN1D evaluation in rare multisystem cardiorespiratory cases; leaves open validation and mechanistic studies.
The fourth subunit of the epithelial sodium channel, termed delta subunit (δ ENaC), was cloned in human and monkey. Increasing evidence shows that this unique subunit and its splice variants exhibit biophysical and pharmacological properties that are divergent from those of α ENaC channels. The widespread distribution of epithelial sodium channels in both epithelial and nonepithelial tissues implies a range of physiological functions. The altered expression of SCNN1D is associated with numerous pathological conditions. Genetic studies link SCNN1D deficiency with rare genetic diseases with developmental and functional disorders in the brain, heart, and respiratory systems. Here, we review the progress of research on δ ENaC in genomics, biophysics, proteomics, physiology, pharmacology, and clinical medicine.
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Ji et al. (2012) reported a review. δ ENaC was evaluated. A review of the delta subunit of the epithelial sodium channel (δ ENaC) highlights its divergent biophysical properties and links SCNN1D deficiency to rare genetic diseases.
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