Gene Symbol | TBL2 |
Entrez Gene ID | 26608 |
Full Name | transducin beta like 2 |
Synonyms | WBSCR13,WS-betaTRP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |