产品名称
WBS22 Rabbit Polyclonal Antibody
基因名称
WBSCR22 HUSSY-03 PP3381
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/114049
Human Swissprot No.
O43709
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O43709/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/66138
Mouse Swissprot No.
Q9CY21
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9CY21
免疫原
Synthesized peptide derived from human WBS22 AA range: 144-194
特异性
This antibody detects endogenous levels of WBS22 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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.
细胞定位
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). .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
