Transducin Beta-Like Protein 2 (TBL2) Reagents

Transducin beta-like protein 2

TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

TBL2; WBSCR13; UNQ563/PRO1125Transducin 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.