Williams-Beuren syndrome chromosomal region 13 protein; transducin beta-like protein 2; WS beta-transducin repeats protein; WS-betaTRP (TBL2, WBSCR13, UNQ563/PRO1125)

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

More general terms

• DNA-binding protein
• phosphoprotein

Additional terms

• Williams-Beuren syndrome; Williams syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=26608
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:26608
• OMIM: https://mirror.omim.org/entry/605842
• UniProt: http://www.uniprot.org/uniprot/Q9Y4P3.html