| ELK.No | ES13272 |
| Product name | S12A1 rabbit pAb |
| Reactivity | Human; Mouse;Rat |
| Applications | WB |
| Other name | |
| Size | 50μL |
| Unit price ($) | 148 |
| Human gene ID | 6557 |
| Human Swiss-Prot | Q13621 |
| Source | Rabbit |
| Isotype | IgG |
| Target | S12A1 |
| Fields | |
| Gene name | SLC12A1 NKCC2 |
| Protein name | S12A1 |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 20495 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | P55014 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | |
| Rat gene link | |
| Rat Swiss-Prot | P55016 |
| Rat Swiss link | View Rat Swiss-Prot |
| Immunogen | Synthesized peptide derived from human S12A1 AA range: 595-645 |
| Specificity | This antibody detects endogenous levels of S12A1 at Human/Mouse/Rat |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Clonality | Polyclonal |
| Dilution | WB 1:500-2000 |
| Purification | The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen. |
| Concentration | 1 mg/ml |
| Storage stability | -20°C/1 year |
| Molecular Weight (Da) | 121kD |
| Observed band (KD) | |
| Background | This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010], |
| Function | disease:Defects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM:601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.,function:Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.,similarity:Belongs to the SLC12A transporter family.,tissue specificity:Kidney specific., |
| Subcellular location | Apical cell membrane ; Multi-pass membrane protein . |
| Expression | Kidney; localizes to the thick ascending limbs (at protein level). |

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