TBL2, WBSCR13, Transducin beta-like protein 2, WS beta-transducin repeats protein, WS-betaTRP, Williams-Beuren syndrome chromosomal region 13 protein
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],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.,
