SCNN1B is located on chromosome 16p12.2 and it encodes β-subunit of the epithelial sodium channel (ENaC). The amiloride-sensitive ENaC complex is composed of three homologous subunits, α (gene symbol SCNN1A), β (gene symbol SCNN1B), and γ (gene symbol SCNN1C). These three subunits share similar structures characterized by two transmembrane domains, a large extracellular loop, and short cytoplasmic amino and carboxyl termini. ENaC is functional only when all three subunits are coexpressed on the epithelial membrane.
|Basic Information of SCNN1B|
|Protein Name||Amiloride-sensitive sodium channel subunit beta|
|Aliases||Beta-NaCH, Epithelial Na(+) channel subunit beta(Beta-ENaC, ENaCB), Nonvoltage-gated sodium channel 1 subunit beta, SCNEB|
|Organism||Homo sapiens (Human)|
SCNN1B is a part of the amiloride-sensitive ENaC complex consisting of three subunits (α, β, and γ) that acts as the rate-limiting step in Na+ transport in the distal nephron and plays an important role in Na+ homeostasis and blood pressure regulation. SCNN1B is classified as a membrane channel, but accumulating evidence also indicates that ENaC subunits, including SCNN1B, participate in cellular differentiation. Mutations in the COOH terminus of ENaC β or γ subunit can increase Na+ absorption in the distal nephron of the kidney and thus lead to Liddle’s syndrome. SCNN1B mutations also result in severe hyperkalemia due to pseudohypoaldosteronism type 1.
Fig.1 Schematic representation of sodium handling by the kidney, syndromes causing hypotension and hypertension, genetic factors influencing sodium reabsorption, and potential targeted therapeutic options. (Spence, 2018)
This article finds a drug-, age-, and gender-dependent association between SCNN1B promoter methylation and EH.
This article reports a patient with novel variants of the SCNN1B gene causing PHA1 with persistent, symptomatic hyperkalemia.
This article suggests that Pro616Ser in SCNN1B is a critical amino acid that has a key role in the inhibition of sodium channel activity.
This article reveals that CF-like disease probably results from complex genotypes in several genes in an oligogenic form, with rare variants interacting with environmental factors.
This article suggests that SCNN1B as a tumor-suppressive function that triggers unfolded protein response (UPR) in gastric cancer cells, with implications for its potential clinical applications as a survival biomarker in gastric cancer patients.
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