disease:Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.,function:Involved in protein-protein interactions at adherens junctions.,similarity:Belongs to the beta-catenin family.,similarity:Contains 10 ARM repeats.,tissue specificity:Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung.,
Cell junction .
Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung. Expressed in dermal connective tissue, salivary gland duct and in the corneal layer (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528).
下载说明书
