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TBL2 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.
Gene Name: | transducin (beta)-like 2 |
Synonyms: | TBL2, Transducin (beta)-like 2, Transducin beta-like protein 2, DKFZP43N024, WBSCR13, WS-betaTRP |
Target Sequences: | NM_012453 NP_036585.1 Q9Y4P3 |
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