SCNN1D

The SCNN1D gene encodes for the δ (delta) 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. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G.

SCNN1D
Identifiers
AliasesSCNN1D, ENaCd, ENaCdelta, SCNED, dNaCh, sodium channel epithelial 1 delta subunit, sodium channel epithelial 1 subunit delta
External IDsOMIM: 601328 HomoloGene: 48152 GeneCards: SCNN1D
Orthologs
SpeciesHumanMouse
Entrez

6339

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Ensembl

ENSG00000162572

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UniProt

P51172

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RefSeq (mRNA)

NM_001130413
NM_002978

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RefSeq (protein)

NP_001123885

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Location (UCSC)Chr 1: 1.28 – 1.29 Mbn/a
PubMed searchn/a
Wikidata
View/Edit Human

ENaC is expressed in epithelial cells 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 (SCNN1D) represents that these are NON-voltage-gated channels.

In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid. 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.

As ENaC is strongly inhibited by amiloride, it is also referred to as an "amiloride-sensitive sodium channel".

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