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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SCNN1A-20-RE | 20 (40 μL) | 200 μL |  |
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| SCNN1A-20-OR | 20 (40 μL) | 200 μL |  |
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| SCNN1A-20-GO | 20 (40 μL) | 200 μL |  |
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| SCNN1A-20-GR | 20 (40 μL) | 200 μL |  |
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| SCNN1A-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SCNN1A
Gene Name : Sodium channel epithelial 1 alpha subunit
Chromosome : CHR 12: 637,735,6-634,684,2
Locus : 12p13.31
Alt. Genes : CEBPZ
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