SCNN1A sodium channel epithelial 1 subunit alpha
Gene ID: 6337, updated on 11-Apr-2024Gene type: protein coding
Also known as: BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha
- See all available tests in GTR for this gene
- Go to complete Gene record for SCNN1A
- Go to Variation Viewer for SCNN1A variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive pseudohypoaldosteronism type 1 | See labs |
| Bronchiectasis with or without elevated sweat chloride 2 | See labs |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
| Liddle syndrome 3 | See labs |
Genomic context
- Location:
- 12p13.31
- Sequence:
- Chromosome: 12; NC_000012.12 (6346847..6377359, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SCNN1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- sodium channel, nonvoltage-gated 1 alpha (SCNN1A) @ LOVD
- Variation ViewerRelated Variants
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