ARVCF Antibody – Mouse Monoclonal

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]

ARVCF: Involved in protein-protein interactions at adherens junctions. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 22q11.21

Cellular Component: nucleoplasm; cytoplasm; plasma membrane; intracellular; cell junction

Molecular Function: protein binding

Biological Process: cell-cell adhesion; multicellular organismal development; calcium-dependent cell-cell adhesion; cell adhesion

Disease: Velocardiofacial Syndrome