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SCNN1A

Chr 12p13.31

sodium channel epithelial 1 subunit alpha

Aliases:
ENaCalpha
MANE:
ENST00000228916.7
OMIM: 600228 ↗NCBI: 6337 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Non-CF bronchiectasis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Renal tubulopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Respiratory ciliopathies including non-CF bronchiectasis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Familial pulmonary fibrosis

  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Primary ciliary disorders

  • Rare multisystem ciliopathy disorders

  • Skeletal dysplasia

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Disease associations (Open Targets)

  • pseudohypoaldosteronism, type IB1, autosomal recessive

    0.78

  • bronchiectasis with or without elevated sweat chloride 2

    0.74

  • Generalized pseudohypoaldosteronism type 1

    0.70

  • idiopathic bronchiectasis

    0.63

  • hypertensive disorder

    0.62

  • pseudohypoaldosteronism type 1

    0.60

  • congestive heart failure

    0.58

  • cardiac arrhythmia

    0.56

  • Liddle syndrome 3

    0.54

  • edema

    0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Epithelial sodium channel subunit alpha

This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190, PubMed:28710092, PubMed:8278374). It plays a key role in maintaining sodium homeostasis through electrogenic sodium reabsorption in the kidneys (PubMed:12107247). Additionally, ENaC is essential for airway surface liquid homeostasis, which is crucial for proper mucus clearance (PubMed:24124190, PubMed:28710092)

Diseases associated with SCNN1A

Curated MONDO disease pages that list SCNN1A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.