The amiloride-sensitive sodium channel subunit gamma is encoded by the SCNN1G. The amiloride-sensitive epithelial sodium channel (ENaC) is a heterotrimer formed by the three amiloride-sensitive sodium channel subunits, α, β, and γ. All subunits are thought to have a comparable three-dimensional structure containing two transmembrane segments, intracellular N- and C-termini, and a large extracellular loop.
|Basic Information of SCNN1G|
|Protein Name||Amiloride-sensitive sodium channel subunit gamma|
|Aliases||BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, SCNEG|
|Organism||Homo sapiens (Human)|
ENaC is found in the kidney, colon, lung, and sweat and salivary duct glands where apical membrane localization mediates directional absorption of sodium. The α-ENaC subunit is important in forming the functional channel, whereas the β- and γ-ENaC subunits are crucial modulators of ENaC channel function. In the lung, β- and γ-ENaC subunits facilitate neonatal lung liquid clearance at birth, whereas in the kidney, where Na+ reabsorption is under the control of aldosterone, β- and γ-ENaC subunits seem to be necessary for proper functioning of ENaC channels. In the Xenopus laevis oocyte expression system, the three ENaC subunits are required for maximal expression and activity, and quantification of ENaC subunits expressed at the cell surface indicates that the subunits assemble preferentially in a heterooligomeric α-β-γ channel complex. SCNN1G has been linked to a suggestive QTL for systolic blood pressure, and mutations in SCNN1G are responsible for Liddle’s syndrome.
Fig.1 Schematic illustration of the TGF-β/ENaC pathway in a generalized alveolar epithelial cell monolayer. (Peters, 2014)
This article suggests that Pro616Ser 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 a role for a common genetic variant of SCNN1G plays role in blood pressure determination.
This article reveals that upon a regular and salt-deficient diet, both β- and γ-ENaC floxed mice show no difference in their mRNA transcript expression levels, plasma electrolytes, and aldosterone concentrations as well as weight changes compared with control animals.
This article suggests that the new nonsense mutation (Q567X) of the SCNN1G gene is likely the cause of Liddle's syndrome in family 2.
Membrane protein studies have advanced significantly over the past few years. Based on our versatile Magic™ membrane protein production platform, we could offer a series of membrane protein preparation services for worldwide customers in reconstitution forms as well as multiple active formats. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SCNN1G antibody development services.
During the past years, Creative Biolabs has successfully generated many functional membrane proteins for our global customers. We are happy to accelerate the development of our clients’ programs with our one-stop, custom-oriented service. For more detailed information, please feel free to contact us.