蛋白名称
Transducin beta-like protein 2
免疫原
The antiserum was produced against synthesized peptide derived from human TBL2. AA range:381-430
特异性
TBL2 Monoclonal Antibody detects endogenous levels of TBL2 protein.
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 antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
TBL2; WBSCR13; Transducin beta-like protein 2; WS beta-transducin repeats protein; WS-betaTRP; Williams-Beuren syndrome chromosomal region 13 protein
背景
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008],
功能
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.,
