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Malignant tissues displayed moderate cytoplasmic staining with additional luminal membrane positivity in most adenocarcinomas. Renal, urothelial and testicular malignancies were mainly negative.
GENE INFORMATION
Gene name
SCNN1A (HGNC Symbol)
Synonyms
ENaCalpha, SCNN1
Description
Sodium channel, non voltage gated 1 alpha subunit (HGNC Symbol)
Entrez gene 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 different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]