SCNN1G Antibody

1. One nonsynonymous amino acid variants in SCNN1G in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was identified. PMID: 25900089
2. Both vascular smooth muscle cell and bronchial gamma-ENaC downregulation may explain pulmonary fluid disturbances and participate in pulmonary edema pathogenesis. PMID: 26437894
3. Suggest that SCNN1G gene has important roles in blood pressure regulation in the Han Chinese population. PMID: 25231509
4. Data indicate that urokinase-type plasminogen activator (uPA) activates epithelial sodium channel, gamma subunit (ENaC gamma) through catalytic activity-dependent proteolytic modification. PMID: 25555911
5. High serum leptin may reduce endometrial receptivity by activating the STAT3 signal pathway and down-regulating gamma-ENaC expression in the endometrium. PMID: 25450293
6. human kidney gammaENaC is subject to proteolytic cleavage, yielding fragments compatible with furin cleavage, and proteinuria is associated with cleavage at the putative prostasin/kallikrein site and removal of the inhibitory tract within gammaENaC PMID: 25060057
7. gamma subunit palmitoylation has a dominant role over beta subunit palmitoylation in modulating ENaC gating PMID: 24692558
8. These results suggest that the mutant gammaL511Q enhances ENaC activity by increasing channel open probability and dampens channel regulation by extracellular Na(+) and proteases. PMID: 23136006
9. Mutating two valine residues (V182 and V193) in the critical region of gammaENaC prevented proteolytic activation of ENaC by Cat-S. PMID: 22864553
10. All four ENaC subunits (alphabetagammadelta) are expressed in the normal human eye, with distinct localization of subunits possibly reflecting different functional states of the channel. PMID: 22167092
11. variants of ENaC subunits may contribute to the variation of BP response to dietary sodium intake PMID: 21562341
12. The intronic single-nucleotide polymorphism of SCNN1G (rs13331086) was significantly positively associated with higher blood pressure and urinary potassium excretion in 4 white European cohorts. PMID: 22006290
13. Demonstrate that the metalloprotease meprin beta and gamma-ENaC associate directly through cytoplasmic domains. PMID: 20953144
14. A new nonsense mutation(Q567X) of the SCNN1G gene is likely the cause of Liddle's syndrome in family 2. PMID: 20376790
15. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel gamma-subunit gene. PMID: 12107247
16. GammaENaC Asn530Ser mutation increases channel open probability and is consistent with abnormally high sodium reabsorption in distal nephron. First mutation in extracellular domain of ENaC subunit with increased ENaC activity and Liddle's syndrome. PMID: 12473862
17. Not only are CFTR and ENaC activated together in duct salt absorption, but ENaC activation depends on functioning CFTR. PMID: 12548396
18. Common variants of the ENaC gamma subunit confer susceptibility to human essential hypertension. PMID: 15661075
19. We conclude that overexpression of ClC-5, specifically amino acids 347-647, can alter the normal translation or trafficking of ENaC and other ion transport proteins by a mechanism that is independent of the chloride conductance of ClC-5. PMID: 15702377
20. SCNN1G is a modulator in Cystic Fibrosis. PMID: 16463024
21. 14-3-3 inhibits the interaction between the WW domains of hNedd4-2 and the PY motif of the epithelial Na(+) channel, ENaC PMID: 16716084
22. A synthetic peptide corresponding to the fragment cleaved from the gamma subunit is a reversible inhibitor of endogenous ENaCs in cells; results suggest that multiple proteases cleave ENaC gamma subunits to fully activate the channel. PMID: 17199078
23. genetic variants in ENaCgamma (epithelial sodium channel gamma) genes do not modulate disease severity in the majority of CF patients PMID: 17560176
24. Relatively common polymorphisms in the SCNN1G gene are associated with high systolic blood pressure in the general Australian white population. PMID: 17698725
25. protease binding and perhaps cleavage of the gamma subunit results in ENaC activation PMID: 17998393
26. Plasmin activates epithelial Na+ channels by cleaving the gamma subunit PMID: 18981180
27. Plasmin in nephrotic urine activates the epithelial sodium channel PMID: 19073825

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HGNC: 10602

OMIM: 177200

KEGG: hsa:6340

STRING: 9606.ENSP00000300061

UniGene: Hs.371727