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SCNN1A sodium channel epithelial 1 alpha subunit

Also known as: BESC2; ENaCa; SCNEA; SCNN1; ENaCalpha

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]

Genomic context

Location:
12p13.31
Sequence:
Chromosome: 12; NC_000012.12 (6346843..6377357, complement)
Total number of exons:
14

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