Sodium Channel, Nonvoltage-Gated 1, gamma (SCNN1G) (Extracellular Domain) antibody

Antigen: Sodium Channel, Nonvoltage-Gated 1, gamma (SCNN1G)

Synonyms: PHA1, ENaCg, SCNEG, ENaCgamma, ENaC, SCNN1G, scnn1g, MGC81424

Binding Site: Extracellular Domain

Clonality: Polyclonal

Host: Rabbit

Reactivity: Please enquire

Conjugate: Un-conjugated

Application: Immunohistochemistry (IHC)

Catalog no.: ABIN350061

Additional Information

Alternative name: amiloride sensitive sodium channel subunit gamma (SCNN1G, SCNEG, Gamma-ENaC)

UniProt: P51170

Immunogen: A synthetic peptide from the extracellular domain of human amiloride sensitive sodium channel subunit gamma (SCNN1G, SCNEG, Gamma-ENaC) conjugated to immunogenic carrier protein was used as the immunogen.

Format: Lyophilized

Description: FUNCTION: Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. SUBUNIT: Heterotetramer of two alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein. Note: Apical membrane of epithelial cells. PTM: Phosphorylated on serine and threonine residues. PTM: Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation. DISEASE: Defects in SCNN1G are a cause of Liddle syndrome. It is an autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel. Also known as: Amiloride-sensitive sodium channel subunit gamma (SCNN1G, SCNEG), Epithelial Na(+) channel subunit gamma, Gamma-ENaC, Gamma-NaCH, PHA1, ENaCg, SCNEG, ENaCgamma.

Specificity: Appears to be specific for SCNN1G.

Application Details

Application Notes: IHC. A dilution of 1 : 300 to 1 : 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.

Purity: whole serum

Storage: Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.

Restrictions: For Research Use only

Publications

Voilley, Bassilana, Mignon et al.: "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel." in: Genomics, Vol. 28, Issue 3, pp. 560-5, 1996 (PubMed).

Hansson, Nelson-Williams, Suzuki et al.: "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome." in: Nature genetics, Vol. 11, Issue 1, pp. 76-82, 1995 (PubMed).

McDonald, Price, Snyder et al.: "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel." in: The American journal of physiology, Vol. 268, Issue 5 Pt 1, pp. C1157-63, 1995 (PubMed).

Thomas, Doggett, Fisher et al.: "Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel." in: The Journal of biological chemistry, Vol. 271, Issue 42, pp. 26062-6, 1996 (PubMed).

Pirozzi, McConnell, Uveges et al.: "Identification of novel human WW domain-containing proteins by cloning of ligand targets." in: The Journal of biological chemistry, Vol. 272, Issue 23, pp. 14611-6, 1997 (PubMed).

Halushka, Fan, Bentley et al.: "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis." in: Nature genetics, Vol. 22, Issue 3, pp. 239-47, 1999 (PubMed).

Arai, Zachman, Shibasaki et al.: "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?" in: The Journal of clinical endocrinology and metabolism, Vol. 84, Issue 7, pp. 2434-7, 1999 (PubMed).

Harvey, Dinudom, Cook et al.: "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel." in: The Journal of biological chemistry, Vol. 276, Issue 11, pp. 8597-601, 2001 (PubMed).

Saxena, Hanukoglu, Saxena et al.: "Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes." in: The Journal of clinical endocrinology and metabolism, Vol. 87, Issue 7, pp. 3344-50, 2002 (PubMed).

McDonald, Western, McNeil et al.: "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel." in: American journal of physiology. Renal physiology, Vol. 283, Issue 3, pp. F431-6, 2002 (PubMed).