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ENaC α

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Target not currently curated in GtoImmuPdb

Target id: 738

Nomenclature: ENaC α

Family: Epithelial sodium channel (ENaC)

Quaternary Structure: Complexes
ENaCαβγ
Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 669 12p13 SCNN1A sodium channel epithelial 1 subunit alpha 1
Mouse - 699 6 F3 Scnn1a sodium channel, nonvoltage-gated 1 alpha 1
Rat - 698 4q42 Scnn1a sodium channel epithelial 1 subunit alpha 1
Previous and Unofficial Names Click here for help
SCNN1 | alpha-ENaC | amiloride-sensitive sodium channel subunit alpha | epithelial Na(+) channel subunit alpha | epithelial sodium channel alpha subunit | nonvoltage-gated sodium channel 1 subunit alpha | SCNEA | ENaC alpha | sodium channel, non-voltage-gated 1 alpha subunit | sodium channel, non voltage gated 1 alpha subunit | sodium channel | sodium channel epithelial 1 alpha subunit
Database Links Click here for help
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Pharos
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
sodium
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Bronchiectasis with or without elevated sweat chloride 2; BESC2
Synonyms: Bronchiectasis [Disease Ontology: DOID:9563]
Idiopathic bronchiectasis [Orphanet: ORPHA60033]
Disease Ontology: DOID:9563
OMIM: 613021
Orphanet: ORPHA60033
Disease:  Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B
Synonyms: Autosomal recessive pseudohypoaldosteronism type 1 [Orphanet: ORPHA171876]
Generalized pseudohypoaldosteronism type 1 [Orphanet: ORPHA171876]
Pseudohypoaldosteronism [Disease Ontology: DOID:4479]
Disease Ontology: DOID:4479
OMIM: 264350
Orphanet: ORPHA171876

References

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1. Hanukoglu I, Hanukoglu A. (2016) Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene, 579 (2): 95-132. [PMID:26772908]

Contributors

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