ITN0437
ITN0437
- Catalog: ITN0437
- Gene/Protein: SCNN1A SCNN1
- Product Description: Immunotag™ SCNNA Polyclonal Antibody
385.0000
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Antibody Specification | |
Datasheet | |
Target Protein | SCNNA |
Clonality | Polyclonal |
Storage/Stability | -20°C/1 year |
Application | WB,ELISA |
Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
Concentration | 1 mg/ml |
Reactive Species | Human,Mouse,Rat |
Host Species | Rabbit |
Immunogen | Synthesized peptide derived from human protein, at AA range: 320-400 |
Specificity | SCNNA Polyclonal Antibody detects endogenous levels of protein. |
Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
Gene Name | SCNN1A SCNN1 |
Accession No. | P37088 Q61180 P37089 |
Description | sodium channel epithelial 1 alpha subunit(SCNN1A) Homo sapiens Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes 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. [provided by RefSeq, Apr 2009], |
Cell Pathway/ Category | Taste transduction,Aldosterone-regulated sodium reabsorption, |
Protein Expression | Colon,Kidney,Lung,Nasal epithelium,Placenta,Trachea, |
Subcellular Localization | plasma membrane,integral component of plasma membrane,integral component of membrane,apical plasma membrane,motile cilium,sodium channel complex,ciliary membrane,extracellular exosome, |
Protein Function | disease:Defects in SCNN1A are a cause of autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]. PHA1 is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal recessive form that is severe, and the dominant form which is more milder and due to defects in mineralocorticoid receptor. Autosomal recessive PHA1 is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss.,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.,induction:By aldosterone.,PTM:Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.,similarity:Belongs to the amiloride-sensitive sodium channel family.,subcellular location:Apical membrane of epithelial cells.,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.,tissue specificity: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., |
Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |