基因名称(Gene Name)
WBSCR22 HUSSY-03 PP3381
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
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
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.,
