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SCNN1A

Official Full Name
sodium channel epithelial 1 subunit alpha
Organism
Homo sapiens
GeneID
6337
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. [provided by RefSeq, Apr 2009]
Synonyms
BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha;

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