Species: Hu
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu, Xp
Applications: WB, ELISA, IHC, IP
Host: Mouse Monoclonal
Species: Hu, Mu, Rt
Applications: ICC/IF
Host: Rabbit Polyclonal
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein.
Bioinformatics
Entrez |
Human |
Uniprot |
Human Human |
Product By Gene ID |
421 |
Alternate Names |
- armadillo repeat gene deleted in velocardiofacial syndrome
- armadillo repeat protein deleted in velo-cardio-facial syndrome
- FLJ35345
|