TBL2 Chromosome 7
Transducin beta like 2
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What This Gene Does
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]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000106638
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS185080024 | Health Risk | Conflicting classifications of pathogenicity | — |