Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a)

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ENaCa; ENaCalpha; SCNEA; SCNN1; Sodium Channel,Nonvoltage-Gated 1,Alpha; Epithelial Na(+) channel subunit alpha; Nonvoltage-gated sodium channel 1 subunit alpha

Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a)
Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. Amiloride Sensitive Sodium Channel Subunit Alpha is the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD337Hu01 Recombinant Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD337Hu01 Polyclonal Antibody to Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) WB; IHC; ICC; IP.
MAD337Hu21 Monoclonal Antibody to Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) WB; IHC; ICC; IP.
Assay Kits SED337Hu ELISA Kit for Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD337Mu01 Recombinant Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD337Mu01 Polyclonal Antibody to Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD337Ra01 Recombinant Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD337Ra01 Polyclonal Antibody to Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) WB; IHC; ICC; IP.
MAD337Ra21 Monoclonal Antibody to Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) WB; IHC; ICC; IP.
Assay Kits SED337Ra ELISA Kit for Amiloride Sensitive Sodium Channel Subunit Alpha (SCNN1a) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning."Proc. Natl. Acad. Sci. U.S.A. 91:247-251(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel."Am. J. Physiol. 266:L728-L734(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel."Hum. Genet. 102:576-581(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene."Pediatr. Res. 46:208-214(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Upregulated expression of ENaC in human CF nasal epithelium."J. Cyst. Fibros. 7:197-205(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  9. "5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins."Am. J. Physiol. 274:C1312-C1323(1998) [PubMed] [Europe PMC] [Abstract]
  10. "The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene."Mol. Endocrinol. 15:575-588(2001) [PubMed] [Europe PMC] [Abstract]
  11. "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects."J. Clin. Endocrinol. Metab. 73:936-944(1991) [PubMed] [Europe PMC] [Abstract]
  12. "Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel."Am. J. Physiol. 274:C1081-C1089(1998) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of novel human WW domain-containing proteins by cloning of ligand targets."J. Biol. Chem. 272:14611-14616(1997) [PubMed] [Europe PMC] [Abstract]
  14. "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel."J. Biol. Chem. 276:8597-8601(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel."Am. J. Physiol. 283:F431-F436(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation."J. Biol. Chem. 283:25290-25295(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes."J. Steroid Biochem. Mol. Biol. 111:268-274(2008) [PubMed] [Europe PMC] [Abstract]
  18. "Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]
  19. "Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9)."J. Biol. Chem. 287:19266-19274(2012) [PubMed] [Europe PMC] [Abstract]
  20. "Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures."Am. J. Physiol. 305:L990-L1001(2013) [PubMed] [Europe PMC] [Abstract]
  21. "ENaC modulators and renal disease."Curr. Mol. Pharmacol. 6:35-43(2013) [PubMed] [Europe PMC] [Abstract]
  22. "Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension."Hypertension 34:631-637(1999) [PubMed] [Europe PMC] [Abstract]
  23. ErratumHypertension 41:1E-1E(2003)
  24. "Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel."J. Biol. Chem. 277:5-8(2002) [PubMed] [Europe PMC] [Abstract]
  25. "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?"J. Clin. Endocrinol. Metab. 84:2434-2437(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel."J. Pediatr. 135:739-745(1999) [PubMed] [Europe PMC] [Abstract]
  27. "Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes."J. Clin. Endocrinol. Metab. 87:3344-3350(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study."Clin. Chem. 51:952-956(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism."Clin. Endocrinol. (Oxf.) 62:547-553(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome."Hum. Mol. Genet. 14:3493-3498(2005) [PubMed] [Europe PMC] [Abstract]
  31. "Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease." Hum. Mutat. 30:1093-1103(2009) [PubMed] [Europe PMC] [Abstract]