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SCNN1A (NM_001159575) - sodium channel epithelial 1 subunit alpha

Amiloride-Sensitive Sodium Channel Subunit Alpha Isoform 3

Mutations Visualisation

Protein summary

This is an alternative isoform of SCNN1A protein. View all 3 isoforms
SCNN1A: amiloride-sensitive sodium channel subunit alpha isoform 3
Description:

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
692 residues
All mutations
133
PTM sites
8
CDS
6,457,038 - 6,486,432
Transcription
6,456,008 - 6,486,523
21.82% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 6337
UniProt
Ensembl