Williams-Beuren syndrome chromosomal region 13 protein; transducin beta-like protein 2; WS beta-transducin repeats protein; WS-betaTRP (TBL2, WBSCR13, UNQ563/PRO1125)
Jump to navigation
Jump to search
Function
- phosphorylated upon DNA damage, probably by ATM or ATR
Structure
contains 7 WD repeats
Pathology
- WBSCR13 locus in the Williams-Beuren syndrome critical region
- haploinsufficiency of WBSCR13 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome