SCNN1A (NM_001038) - sodium channel epithelial 1 subunit alpha
Amiloride-Sensitive Sodium Channel Subunit Alpha Isoform 1
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Protein 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].
- Strand
- -
- Chromosome
- 12
- Protein
- 669 residues
- All mutations
- 129
- PTM sites
- 8
- CDS
- 6,457,038 - 6,483,949
- Transcription
- 6,456,008 - 6,484,905
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