External Ids for ARVCF Gene
Previous GeneCards Identifiers for ARVCF Gene
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays 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. The 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. The 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. [provided by RefSeq, Jun 2010]
GeneCards Summary for ARVCF Gene
ARVCF (Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome) is a Protein Coding gene. Diseases associated with ARVCF include velocardiofacial syndrome and malignant ependymoma. GO annotations related to this gene include binding. An important paralog of this gene is PKP3.
UniProtKB/Swiss-Prot for ARVCF Gene
Involved in protein-protein interactions at adherens junctions