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sodium channel, nonvoltage-gated 1 alpha
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 different isoforms have been described for this gene.
SCNN1A; sodium channel, nonvoltage-gated 1 alpha; amiloride-sensitive sodium channel subunit alpha; ENaC alpha; alpha-ENaC; alpha-NaCH; epithelial Na(+) channel subunit alpha; epithelial sodium channel alpha subunit; amiloride-sensitive epithelial sodium channel; nonvoltage-gated sodium channel 1 subunit alpha; sodium channel, nonvoltage-gated, type I, alpha polypeptide; ENaC; SCNEA; Scnn1; mENaC