SCNN1G

Chr 16

sodium channel epithelial 1 subunit gamma

Also known as: BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG

NCBI Gene: 6340 ENSG00000166828 UniProt: P51170

The protein forms the gamma subunit of the epithelial sodium channel (ENaC), which mediates sodium reabsorption in the kidneys and maintains airway surface liquid homeostasis for proper mucus clearance. Mutations cause Liddle syndrome, pseudohypoaldosteronism type IB3, and bronchiectasis with or without elevated sweat chloride, with both autosomal dominant and autosomal recessive inheritance patterns depending on the condition. The gene is moderately constrained against loss-of-function variants (LOEUF 0.408), reflecting its essential role in sodium and fluid homeostasis across multiple organ systems.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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 gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLiddle syndrome 2

UniProtBronchiectasis with or without elevated sweat chloride 3

UniProtPseudohypoaldosteronism 1B3, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

Liddle syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.41

LOEUF

GOF

Mechanism· predicted

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GeneReview available — SCNN1G