| ELK.No | ES12327 |
| Product name | WBS22 rabbit pAb |
| Reactivity | Human; Mouse |
| Applications | WB |
| Other name | |
| Size | 100μL |
| Unit price ($) | 248 |
| Human gene ID | 114049 |
| Human Swiss-Prot | O43709 |
| Source | Rabbit |
| Isotype | IgG |
| Target | WBS22 |
| Fields | |
| Gene name | WBSCR22 HUSSY-03 PP3381 |
| Protein name | WBS22 |
| Human gene link | View Human Gene |
| Human Swiss link | View Human Swiss-Prot |
| Mouse gene ID | 66138 |
| Mouse gene link | View Mouse Gene |
| Mouse Swiss-Prot | Q9CY21 |
| Mouse Swiss link | View Mouse Swiss-Prot |
| Rat gene ID | |
| Rat gene link | |
| Rat Swiss-Prot | |
| Rat Swiss link | |
| Immunogen | Synthesized peptide derived from human WBS22 AA range: 144-194 |
| Specificity | This antibody detects endogenous levels of WBS22 at Human/Mouse |
| 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) | 31kD |
| Observed band (KD) | |
| Background | This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011], |
| Function | disease:Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,function:Methyltransferase that may act on DNA.,similarity:Belongs to the methyltransferase superfamily.,tissue specificity:Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis., |
| Subcellular location | Nucleus . Nucleus, nucleoplasm . Cytoplasm, perinuclear region . Cytoplasm . Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). . |
| Expression | Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cells (at protein level). Tends to be down-regulated in lungs affected by inflammatory diseases or neoplasia (at protein level). Expressed in immune cells, including B and T lymphocytes and macrophages. |

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