The SCNN1A gene encodes for the α subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ.[5] The other ENAC subunits are encoded by SCNN1B, SCNN1G, and SCNN1D.
ENaC is expressed in epithelial cells[5] and is different from the voltage-gated sodium channel that is involved in the generation of action potentials in neurons. The abbreviation for the genes encoding for voltage-gated sodium channel starts with three letters: SCN. In contrast to these sodium channels, ENaC is constitutively active and is not voltage-dependent. The second N in the abbreviation (SCNN1A) represents that these are NON-voltage-gated channels.
In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid.[6] ENaC allows transfer of sodium ions across the epithelial cell membrane in so-called "tight-epithelia" that have low permeability. The flow of sodium ions across epithelia affects osmolarity of the extracellular fluid. Thus, ENaC plays a central role in the regulation of body fluid and electrolyte homeostasis and consequently affects blood pressure.[7]
As ENaC is strongly inhibited by amiloride, it is also referred to as an "amiloride-sensitive sodium channel".
^ abcGRCh38: Ensembl release 89: ENSG00000111319 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000030340 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abHanukoglu I, Hanukoglu A (April 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.
^Rossier BC, Baker ME, Studer RA (January 2015). "Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited". Physiological Reviews. 95 (1): 297–340. doi:10.1152/physrev.00011.2014. PMID 25540145.
The SCNN1A gene encodes for the α subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous...
imbalanced salts in the body especially in infancy. A stop mutation in the SCNN1A gene has been shown to be associated with female infertility. PHA2 also...
homologous subunits α or δ, β, and γ, These subunits are encoded by four genes: SCNN1A, SCNN1B, SCNN1G, and SCNN1D. The ENaC is involved primarily in the reabsorption...
region Y Mutations lead to 46,XY females; translocations lead to 46,XX males SCNN1A Alpha subunit of Epithelial sodium channel (ENaC) Nonsense mutation leads...
CT imaging. Testing of her CFTR (gene associated with cystic fibrosis), SCNN1A, SCNN1B, and SCNN1G genes came back normal. Sequencing of her CA12 gene...
subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G. ENaC is expressed in epithelial cells and is different...
subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1G, and SCNN1D. ENaC is expressed in epithelial cells and is different...
subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D. ENaC is expressed in epithelial cells and is different...
of pseudohypoaldosteronism type I result from mutations in three genes (SCNN1A, SCNN1B, and SCNN1B) that encode for protein subunits of the Epithelial...
SCNN1B Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A Bronchiectasis with or without elevated sweat chloride 3; 613071; SCNN1G...
contributes to pathological pain NEDD4L has been shown to interact with SCNN1A. GRCh38: Ensembl release 89: ENSG00000049759 – Ensembl, May 2017 GRCm38:...
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