SCNN1A

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSCNN1A
Namesodium channel epithelial 1 subunit alpha
Typeprotein-coding
Sourcemygene

Summary

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding diffe

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