disease:Haploinsufficiency of TBL2 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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 7 WD repeats.,
endoplasmic reticulum,integral component of endoplasmic reticulum membrane,
Kidney,Testis,Whole embryo,
下载说明书
