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SCNN1A

Official Full Name
sodium channel, non-voltage-gated 1 alpha subunit
Background
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.
Synonyms
SCNN1A; sodium channel, non-voltage-gated 1 alpha subunit; SCNN1, sodium channel, non voltage gated 1 alpha , sodium channel, nonvoltage gated 1 alpha; amiloride-sensitive sodium channel subunit alpha; ENaCalpha; alpha-ENaC; alpha-NaCH; alpha ENaC-2; ep; SCNEA; alpha cENaC 431; epithelial Na(+) channel subunit alpha; sodium channel, nonvoltage-gated 1 alpha; nonvoltage-gated

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